PDB ID | 3BIY | CHAIN | A |
---|---|---|---|
Protein name | Histone acetyltransferase p300 | ||
Uniprot Accession | Q09472 | ||
The number of similar proteins | 10 | ||
The number of binding states | 1 | ||
The number of binding partners | 0 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
3BIY (CHAIN: A) | |
1 | Monomeric state |
Only interaction residues |
|
||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
1297_ARG | TER |
ClinVar chr22:41564467 |
-
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
1305_ARG | PRO |
ClinVar chr16:3790511 |
rs587783488
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1305_ARG | TER |
ClinVar chr16:3790512 |
-
|
Pathogenic | - | not provided [MedGen:CN517202] | |
1305_ARG | LEU |
8.3kJPN chr22:41564492 |
-
|
- | 0.0001 | - | |
1311_ARG | PRO |
ClinVar chr16:3790493 |
rs1596813665
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1312_ARG | TER |
ClinVar chr22:41564512 |
rs1555911075
|
Pathogenic | - | not provided [MedGen:CN517202] | |
1313_GLN | TER |
ClinVar chr16:3790488 |
rs587783489
|
Pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1324_ARG | TER |
ClinVar chr16:3790455 |
rs587783490
|
Pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations|not provided [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783|MedGen:CN517202] | |
1339_MET | THR |
ClinVar chr22:41564594 |
rs1064795607
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
1342_ARG | PRO |
ClinVar chr16:3790400 |
rs121434626
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1342_ARG | GLN |
ClinVar chr16:3790400 |
rs121434626
|
Pathogenic | - | Neurodevelopmental disorder [MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926] | |
1346_SER | PHE |
ClinVar chr16:3789714 |
rs149877180
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1355_TYR | TER |
ClinVar chr22:41564764 |
rs886043598
|
Pathogenic | - | not provided [MedGen:CN517202] | |
1355_TYR | TER |
ClinVar chr22:41564764 |
rs886043598
|
Pathogenic | - | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783] | |
1356_ARG | LEU |
ClinVar chr16:3789684 |
rs1596812290
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1356_ARG | TER |
ClinVar chr16:3789685 |
rs1596812306
|
Pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1356_ARG | TER |
ClinVar chr22:41564765 |
rs1440862488
|
Pathogenic | - | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783] | |
1358_LYS | ARG |
8.3kJPN chr22:41564772 |
-
|
- | 0.0002 | - | |
1359_ALA | ASP |
ClinVar chr16:3789675 |
rs1064796948
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
1373_PHE | SER |
ClinVar chr16:3789633 |
rs587783492
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1379_GLN | TER |
ClinVar chr16:3789616 |
rs1596812202
|
Pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1381_TYR | TER |
ClinVar chr16:3789608 |
-
|
Pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1385_CYS | PHE |
ClinVar chr16:3789597 |
rs200616542
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1390_THR | ARG |
ClinVar chr16:3789582 |
rs145988918
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1391_ARG | SER |
ClinVar chr16:3788673 |
rs797045494
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1391_ARG | SER |
ClinVar chr22:41565507 |
rs1464734494
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783] | |
1392_ARG | PRO |
ClinVar chr16:3788671 |
rs778448390
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1393_VAL | ILE |
8.3kJPN chr22:41565511 |
-
|
- | 0.0001 | - | |
1394_TYR | TER |
ClinVar chr16:3788664 |
rs1596810465
|
Pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1397_TYR | HIS |
ClinVar chr16:3788657 |
rs1596810435
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1399_ASP | ASN |
ClinVar chr22:41565529 |
rs1057519889
|
Likely pathogenic | - | Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Squamous cell lung carcinoma|Medulloblastoma|Neoplasm of uterine cervix|Carcinoma of esophagus [Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482] | |
1399_ASP | TYR |
ClinVar chr22:41565529 |
rs1057519889
|
Likely pathogenic | - | Medulloblastoma|Transitional cell carcinoma of the bladder|Squamous cell carcinoma of the head and neck|Neoplasm of uterine cervix|Squamous cell lung carcinoma|Carcinoma of esophagus [Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0011459,MONDO:MONDO:0019086,MedGen:C0152018,Orphanet:70482] | |
1399_ASP | TYR |
ClinVar chr16:3788651 |
rs1596810419
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1399_ASP | GLU |
ClinVar chr16:3788649 |
rs928061320
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1405_ARG | HIS |
gnomAD chr22:41565548 |
rs138855106
|
- | 0.00011556 | - | |
1405_ARG | CYS |
8.3kJPN chr22:41565547 |
rs758324686
|
- | 0.0001 | - | |
1410_ARG | LEU |
ClinVar chr16:3788617 |
rs1057519884
|
Likely pathogenic | - | Transitional cell carcinoma of the bladder|Neoplasm of uterine cervix|Medulloblastoma|Adenoid cystic carcinoma|Squamous cell carcinoma of the head and neck|Neoplasm of the large intestine|Gastric adenocarcinoma|Hepatocellular carcinoma|Squamous cell lung carcinoma|Glioblastoma|Malignant melanoma of skin [Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779] | |
1410_ARG | HIS |
ClinVar chr16:3788617 |
rs1057519884
|
Likely pathogenic | - | Transitional cell carcinoma of the bladder|Medulloblastoma|Neoplasm of uterine cervix|Neoplasm of the large intestine|Squamous cell carcinoma of the head and neck|Adenoid cystic carcinoma|Squamous cell lung carcinoma|Hepatocellular carcinoma|Gastric adenocarcinoma|Malignant melanoma of skin|Glioblastoma [Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360] | |
1410_ARG | GLY |
ClinVar chr16:3788618 |
rs398124146
|
Likely pathogenic | - | Glioblastoma|Squamous cell carcinoma of the head and neck|Adenoid cystic carcinoma|Malignant melanoma of skin|Neoplasm of the large intestine|Squamous cell lung carcinoma|Neoplasm of uterine cervix|Transitional cell carcinoma of the bladder|Gastric adenocarcinoma|Medulloblastoma|Hepatocellular carcinoma [MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636,Orphanet:360|MONDO:MONDO:0010150,MeSH:D000077195,MedGen:C1168401,OMIM:275355,Orphanet:67037|MONDO:MONDO:0004971,MeSH:D003528,MedGen:C0010606|Human Phenotype Ontology:HP:0012056,MONDO:MONDO:0005012,MeSH:C562393,MedGen:C0151779|Human Phenotype Ontology:HP:0100834,MONDO:MONDO:0005335,MeSH:D015179,MedGen:C0009404|Human Phenotype Ontology:HP:0030359,MONDO:MONDO:0005097,MedGen:C0149782|Human Phenotype Ontology:HP:0032241,MONDO:MONDO:0021230,MeSH:D002583,MedGen:C0007873|Human Phenotype Ontology:HP:0006740,MONDO:MONDO:0005611,MedGen:C0279680|Human Phenotype Ontology:HP:0033770,MONDO:MONDO:0005036,MedGen:C0278701|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|Human Phenotype Ontology:HP:0001402,Human Phenotype Ontology:HP:0002899,Human Phenotype Ontology:HP:0003007,Human Phenotype Ontology:HP:0006750,MONDO:MONDO:0007256,MedGen:C2239176,OMIM:114550,Orphanet:88673] | |
1411_THR | ILE |
ClinVar chr22:41565566 |
rs1601633708
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783] | |
1411_THR | ILE |
ClinVar chr16:3788614 |
rs2151334254
|
Pathogenic/Likely pathogenic | - | not provided|Rubinstein-Taybi syndrome [MedGen:C3661900|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783] | |
1414_TYR | HIS |
ClinVar chr16:3788606 |
rs1555473499
|
Pathogenic | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
1417_ILE | THR |
ClinVar chr16:3788596 |
rs1064795050
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
1423_GLU | GLY |
ClinVar chr16:3788578 |
rs587783494
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1429_GLY | GLU |
ClinVar chr16:3788560 |
rs1555473491
|
Pathogenic | - | Rubinstein-Taybi syndrome|not provided [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783|MedGen:C3661900] | |
1429_GLY | ARG |
ClinVar chr16:3788561 |
rs2052127299
|
Pathogenic | - | not provided [MedGen:C3661900] | |
1430_TYR | TER |
ClinVar chr16:3786813 |
rs147688139
|
Pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1434_HIS | ARG |
ClinVar chr16:3786802 |
rs797044860
|
Pathogenic | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
1434_HIS | LEU |
ClinVar chr22:41566424 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
1436_TRP | TER |
ClinVar chr22:41566430 |
rs893031937
|
Pathogenic | - | not provided [MedGen:C3661900] | |
1437_ALA | THR |
ClinVar chr16:3786794 |
rs1596805927
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1440_PRO | THR |
ClinVar chr22:41566441 |
-
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783] | |
1444_ASP | GLY |
ClinVar chr16:3786772 |
rs886041286
|
Pathogenic/Likely pathogenic | - | not provided|Rubinstein-Taybi syndrome due to CREBBP mutations [MedGen:CN517202|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1445_ASP | GLY |
ClinVar chr16:3786769 |
rs2151329858
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
1446_TYR | CYS |
ClinVar chr16:3786766 |
rs587783496
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1446_TYR | ASP |
ClinVar chr16:3786767 |
rs587783495
|
Pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1446_TYR | CYS |
ClinVar chr22:41566460 |
-
|
Likely pathogenic | - | Rare genetic intellectual disability [MedGen:C5680527,Orphanet:183757] | |
1451_HIS | ARG |
ClinVar chr16:3786751 |
rs1596805792
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1455_GLN | TER |
ClinVar chr22:41566486 |
rs1555911313
|
Pathogenic | - | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency|Inborn genetic diseases [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783|MeSH:D030342,MedGen:C0950123] | |
1455_GLN | TER |
ClinVar chr16:3786740 |
-
|
Pathogenic | - | Rubinstein-Taybi syndrome [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783] | |
1458_PRO | ARG |
ClinVar chr16:3786730 |
rs398124147
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
1458_PRO | SER |
ClinVar chr16:3786731 |
rs199817036
|
Pathogenic | - | Rubinstein-Taybi syndrome [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783] | |
1461_LYS | THR |
8.3kJPN chr16:3786721 |
-
|
- | 0.0004 | - | |
1462_ARG | GLN |
ClinVar chr16:3786718 |
rs1567269945
|
Likely pathogenic | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
1462_ARG | TER |
ClinVar chr16:3786719 |
rs2052070776
|
Pathogenic | - | Rubinstein-Taybi syndrome [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783] | |
1463_LEU | VAL |
ClinVar chr16:3786716 |
rs2052070559
|
Pathogenic | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
1464_GLN | TER |
ClinVar chr22:41566513 |
rs1601634247
|
Pathogenic | - | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783] | |
1467_TYR | CYS |
ClinVar chr16:3786703 |
rs587783497
|
Pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1467_TYR | TER |
ClinVar chr16:3786702 |
rs1555473105
|
Pathogenic | - | not provided [MedGen:CN517202] | |
1471_LEU | PRO |
ClinVar chr16:3786691 |
rs1057520191
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
1484_LYS | ARG |
ClinVar chr16:3786652 |
rs1596805575
|
Pathogenic | - | Rubinstein-Taybi syndrome [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783] | |
1489_GLN | TER |
ClinVar chr22:41568515 |
-
|
Pathogenic | - | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783] | |
1495_LEU | TER |
ClinVar chr22:41568534 |
rs2059176668
|
Pathogenic | - | Intellectual disability [Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756] | |
1502_PRO | LEU |
ClinVar chr16:3786152 |
rs1596804126
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1503_TYR | ASN |
ClinVar chr16:3786150 |
-
|
Likely pathogenic | - | Rubinstein-Taybi syndrome [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783] | |
1504_PHE | CYS |
ClinVar chr22:41568561 |
rs1114167306
|
Pathogenic | - | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783] | |
1505_GLU | TER |
ClinVar chr22:41568563 |
-
|
Pathogenic | - | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783] | |
1511_ASN | ILE | VAR_074021 |
-
|
LB/B | - | - | |
1514_GLU | GLN |
ClinVar chr22:41568590 |
-
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
1518_LYS | TER |
ClinVar chr16:3786105 |
rs1567269316
|
Pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1519_GLU | TER |
ClinVar chr16:3786102 |
rs1555472931
|
Pathogenic | - | Rubinstein-Taybi syndrome [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783] | |
1588_MET | THR |
ClinVar chr22:41569772 |
rs1057521737
|
Pathogenic/Likely pathogenic | - | not provided|Rubinstein-Taybi syndrome due to EP300 haploinsufficiency [MedGen:C3661900|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783] | |
1595_PHE | VAL |
ClinVar chr22:41572254 |
rs1057517732
|
Pathogenic/Likely pathogenic | - | not provided|Rubinstein-Taybi syndrome due to EP300 haploinsufficiency|Multiple congenital anomalies|Inborn genetic diseases|EP300-related condition [MedGen:C3661900|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783|MedGen:C0000772|MeSH:D030342,MedGen:C0950123|] | |
1595_PHE | ILE |
ClinVar chr22:41572254 |
rs1057517732
|
Pathogenic | - | Colorectal cancer [MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500] | |
1600_LEU | VAL |
gnomAD chr22:41572269 |
rs140154690
|
- | 0.00193843 | - | |
1606_ALA | VAL |
8.3kJPN chr22:41572288 |
rs754513034
|
- | 0.0002 | - | |
1627_ARG | HIS |
ClinVar chr16:3781374 |
rs1596791996
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations|not provided [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783|MedGen:C3661900] | |
1627_ARG | LEU |
ClinVar chr16:3781374 |
rs1596791996
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1633_LEU | ARG |
ClinVar chr22:41572369 |
-
|
Likely pathogenic | - | Menke-Hennekam syndrome 2 [MONDO:MONDO:0020769,MedGen:C5193035,OMIM:618333] | |
1633_LEU | VAL |
8.3kJPN chr22:41572368 |
-
|
- | 0.0001 | - | |
1635_ARG | TER |
ClinVar chr16:3781351 |
rs1555471874
|
Pathogenic | - | Rubinstein-Taybi syndrome [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783] | |
1639_TRP | TER |
ClinVar chr16:3781338 |
rs797045495
|
Pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1639_TRP | TER |
ClinVar chr16:3781337 |
rs2051909999
|
Pathogenic | - | Rubinstein-Taybi syndrome [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783] | |
1644_LEU | PHE |
8.3kJPN chr22:41572401 |
rs773501564
|
- | 0.0002 | - | |
1645_ARG | TER |
ClinVar chr22:41572404 |
rs139310551
|
Pathogenic | - | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency|EP300-related disorders [MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783|] | |
1647_SER | PRO |
ClinVar chr16:3781315 |
rs587783503
|
Likely pathogenic | - | Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1650_SER | TYR | VAR_014430 |
-
|
US | - | A pancreatic cancer sample | |
1650_SER | PRO |
ClinVar chr16:3781306 |
rs61731407
|
Likely pathogenic | - | Rubinstein-Taybi syndrome [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783] | |
1650_SER | PHE |
ClinVar chr16:3781305 |
rs2151316542
|
Likely pathogenic | - | Rubinstein-Taybi syndrome|Menke-Hennekam syndrome 1 [MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332]; Rubinstein-Taybi syndrome due to CREBBP mutations [MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783] | |
1656_VAL | ALA |
8.3kJPN chr22:41572438 |
-
|
- | 0.0004 | - |