PDB ID | 1D6N | CHAIN | A |
---|---|---|---|
Protein name | PROTEIN (HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE) | ||
Uniprot Accession | P00492 | ||
The number of similar proteins | 69 | ||
The number of binding states | 4 | ||
The number of binding partners | 1 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1D6N (CHAIN: A) | |
1 | P00492 |
2 | Monomeric state |
3 | P00492 P00492 |
4 | P00492 P00492 P00492 |
Only interaction residues |
|
||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
4_SER | CYS |
8.3kJPN chrX:133594354 |
-
|
- | 0.0001 | - | |
6_GLY | ASP | VAR_006750 |
-
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
7_VAL | GLY | VAR_006751 |
-
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
15_GLY | ASP | VAR_006752 |
-
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
15_GLY | SER | VAR_006753 |
rs137852499
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
15_GLY | SER |
ClinVar chrX:133607407 |
rs137852499
|
Pathogenic; other | - | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT URANGAN [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233|] | |
15_GLY | VAL |
ClinVar chrX:133607408 |
rs1135401801
|
Pathogenic | - | Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
19_ASP | VAL | VAR_006754 |
-
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
22_CYS | TRP | VAR_006755 |
-
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
22_CYS | PHE | VAR_071610 |
-
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
39_GLY | TER |
ClinVar chrX:133607479 |
rs2124290355
|
Pathogenic | - | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
40_LEU | PRO | VAR_006756 |
rs137852480
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
40_LEU | PRO |
ClinVar chrX:133607483 |
rs137852480
|
Pathogenic; other | - | Lesch-Nyhan syndrome|HPRT DETROIT [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510|] | |
41_ILE | PHE | VAR_006757 |
-
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
41_ILE | THR | VAR_006758 |
-
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
43_ASP | TYR | VAR_071611 |
-
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
44_ARG | LYS | VAR_006760 |
rs137852491
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
44_ARG | LYS |
ClinVar chrX:133607495 |
rs137852491
|
Pathogenic | - | Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
46_GLU | VAL |
ClinVar chrX:133609216 |
-
|
Likely pathogenic | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]; Nephrolithiasis/nephrocalcinosis [MedGen:CN580796] | |
47_ARG | HIS | VAR_006761 |
rs387906725
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
47_ARG | HIS |
ClinVar chrX:133609219 |
rs387906725
|
Pathogenic | - | Lesch-nyhan syndrome, neurologic variant|Lesch-Nyhan syndrome [MedGen:C1845892|MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|not provided|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT1-Related Disorders|HPRT1-related condition [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233|MedGen:C3661900|MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233||] | |
48_LEU | PHE |
ClinVar chrX:133609221 |
rs886041298
|
Pathogenic | - | not provided [MedGen:CN517202] | |
49_ALA | VAL | VAR_006762 |
-
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
49_ALA | PRO | VAR_006763 |
rs1556026984
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
49_ALA | PRO |
ClinVar chrX:133609224 |
rs1556026984
|
Likely pathogenic | - | Inborn genetic diseases|Inborn genetic diseases [MeSH:D030342,MedGen:C0950123|MeSH:D030342,MedGen:C0950123]; Nephrolithiasis/nephrocalcinosis [MedGen:CN580796] | |
50_ARG | GLY | VAR_006764 |
rs137852494
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
50_ARG | PRO | VAR_006765 |
-
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
50_ARG | GLY |
ClinVar chrX:133609227 |
rs137852494
|
Pathogenic; other | - | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT TORONTO [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233|] | |
50_ARG | TER |
ClinVar chrX:133609227 |
rs137852494
|
Pathogenic | - | Lesch-Nyhan syndrome|HPRT FUJIMI|not provided|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510||MedGen:C3661900|MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome|Microcephaly [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510|Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563] | |
51_ASP | GLY | VAR_006766 |
rs137852502
|
LB/B | - | - | |
52_VAL | ALA | VAR_006767 |
-
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
52_VAL | MET | VAR_006768 |
-
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
53_MET | LEU | VAR_006769 |
-
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
56_MET | THR | VAR_006770 |
rs137852495
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
56_MET | THR |
ClinVar chrX:133609246 |
rs137852495
|
Pathogenic; other | - | Lesch-nyhan syndrome, neurologic variant|HPRT MONTREAL|HPRT1-Related Disorder [MedGen:C1845892||] | |
57_GLY | ARG | VAR_006771 |
rs137852500
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
57_GLY | ARG |
ClinVar chrX:133609248 |
rs137852500
|
Pathogenic; other | - | HPRT TOOWONG|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [|MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233] | |
59_HIS | ARG | VAR_071612 |
rs1228634091
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
59_HIS | ARG |
8.3kJPN chrX:133609255 |
rs1228634091
|
- | 0.0003 | - | |
60_HIS | ARG | VAR_006772 |
-
|
US | - | - | |
63_ALA | PRO | VAR_071613 |
-
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
64_LEU | PRO | VAR_071614 |
-
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
64_LEU | PHE |
ClinVar chrX:133609269 |
rs137852506
|
Pathogenic | - | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233] | |
67_LEU | PHE |
ClinVar chrX:133609278 |
rs886041930
|
Pathogenic | - | not provided [MedGen:CN517202] | |
67_LEU | PRO |
ClinVar chrX:133609279 |
-
|
Pathogenic | - | not provided [MedGen:CN517202] | |
69_GLY | GLU | VAR_006773 |
rs137852487
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
69_GLY | GLU |
ClinVar chrX:133609285 |
rs137852487
|
Pathogenic | - | HPRT NEW HAVEN|Lesch-Nyhan syndrome|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [|MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510|MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
70_GLY | ARG | VAR_006774 |
rs137852488
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
70_GLY | ARG |
ClinVar chrX:133609287 |
rs137852488
|
Likely pathogenic | - | HPRT YALE|Lesch-Nyhan syndrome|not provided [|MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510|MedGen:CN517202] | |
70_GLY | VAL |
ClinVar chrX:133609288 |
rs2124291450
|
Pathogenic | - | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
71_TYR | CYS | VAR_071615 |
-
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
73_PHE | LEU | VAR_006775 |
rs137852481
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
73_PHE | LEU |
ClinVar chrX:133609298 |
rs137852481
|
Pathogenic; other | - | HPRT FLINT|Lesch-Nyhan syndrome [|MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
73_PHE | CYS |
ClinVar chrX:133609297 |
rs1602741150
|
Pathogenic | - | Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
77_LEU | VAL | VAR_006776 |
rs137852501
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
77_LEU | GLN | VAR_071616 |
-
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
77_LEU | VAL |
ClinVar chrX:133609308 |
rs137852501
|
Pathogenic; other | - | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT SWAN [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233|] | |
77_LEU | PRO |
ClinVar chrX:133609309 |
rs2124291470
|
Pathogenic | - | Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
79_ASP | VAL | VAR_006777 |
rs137852478
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
79_ASP | VAL |
ClinVar chrX:133609315 |
rs137852478
|
Likely pathogenic | - | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT ARLINGTON|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233||MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
103_SER | ARG | VAR_006778 |
rs137852485
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
103_SER | ARG |
ClinVar chrX:133609388 |
rs137852485
|
Pathogenic; other | - | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT MUNICH [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233|] | |
108_GLN | TER |
ClinVar chrX:133620501 |
rs137852489
|
Pathogenic | - | Lesch-Nyhan syndrome|Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510|MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233] | |
109_SER | LEU | VAR_006779 |
rs137852482
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
109_SER | LEU |
ClinVar chrX:133620505 |
rs137852482
|
Likely pathogenic | - | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT LONDON|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233||MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
115_VAL | ILE |
8.3kJPN chrX:133620522 |
-
|
- | 0.0001 | - | |
122_SER | TER |
ClinVar chrX:133620544 |
rs369065223
|
Pathogenic | - | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
123_THR | PRO | VAR_071618 |
-
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
123_THR | ALA |
8.3kJPN chrX:133620546 |
rs1292536313
|
- | 0.0001 | - | |
129_VAL | ASP | VAR_006780 |
rs137852483
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
129_VAL | ASP |
ClinVar chrX:133624222 |
rs137852483
|
Pathogenic; other | - | HPRT MIDLAND|Lesch-Nyhan syndrome [|MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
130_LEU | SER | VAR_006781 |
-
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
131_ILE | MET | VAR_006782 |
rs137852477
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
131_ILE | THR | VAR_006783 |
-
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
131_ILE | MET |
ClinVar chrX:133624229 |
rs137852477
|
Pathogenic; other | - | HPRT ANN ARBOR|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [|MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233] | |
134_ASP | GLY | VAR_006784 |
-
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
134_ASP | TYR |
ClinVar chrX:133627538 |
-
|
Pathogenic | - | Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233] | |
142_MET | LYS | VAR_006785 |
rs137852496
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
142_MET | LYS |
ClinVar chrX:133627563 |
rs137852496
|
Pathogenic | - | Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
143_GLN | TER |
ClinVar chrX:133627565 |
rs2124302024
|
Pathogenic | - | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
146_LEU | PRO | VAR_071619 |
-
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
151_GLN | TER |
ClinVar chrX:133627589 |
rs1569359021
|
Pathogenic | - | not provided [MedGen:CN517202] | |
152_TYR | TER |
ClinVar chrX:133627594 |
rs137852505
|
Pathogenic; other | - | Lesch-Nyhan syndrome|HPRT PARIS [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510|] | |
158_LYS | GLU | VAR_071620 |
-
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
160_ALA | SER | VAR_006787 |
rs137852484
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
160_ALA | SER |
ClinVar chrX:133627616 |
rs137852484
|
Likely pathogenic | - | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT MILWAUKEE|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233||MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
160_ALA | THR |
ClinVar chrX:133627616 |
rs137852484
|
Likely pathogenic | - | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
161_SER | ARG | VAR_006788 |
-
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
167_THR | ILE | VAR_006789 |
rs137852498
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
167_THR | ILE |
ClinVar chrX:133632437 |
rs137852498
|
Pathogenic | - | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233] | |
168_PRO | ALA |
8.3kJPN chrX:133632439 |
rs534390401
|
- | 0.0002 | - | |
169_ARG | TER |
ClinVar chrX:133632442 |
rs137852497
|
Pathogenic | - | Lesch-Nyhan syndrome|Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510|MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
175_PRO | LEU | VAR_006790 |
rs137852493
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
175_PRO | LEU |
ClinVar chrX:133632461 |
rs137852493
|
Pathogenic | - | Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
176_ASP | VAL | VAR_006791 |
-
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
176_ASP | TYR | VAR_006792 |
rs137852492
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
176_ASP | TYR |
ClinVar chrX:133632463 |
rs137852492
|
Pathogenic | - | Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
179_GLY | GLU |
ClinVar chrX:133632644 |
rs2124305307
|
Pathogenic | - | Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
182_ILE | THR | VAR_006796 |
-
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
184_ASP | GLY | VAR_071622 |
-
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
187_VAL | ALA | VAR_006795 |
-
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
188_VAL | ALA |
ClinVar chrX:133632671 |
rs1131691486
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
189_GLY | TER |
ClinVar chrX:133632673 |
-
|
Pathogenic | - | Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
191_ALA | VAL | VAR_071623 |
-
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
193_ASP | GLU | VAR_006797 |
rs137852504
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
193_ASP | ASN | VAR_006798 |
rs267606863
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
193_ASP | ASN |
ClinVar chrX:133632685 |
rs267606863
|
Pathogenic | - | Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
193_ASP | GLU |
ClinVar chrX:133632687 |
rs137852504
|
Pathogenic; other | - | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT MOOSE JAW [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233|] | |
193_ASP | HIS |
ClinVar chrX:133632685 |
rs267606863
|
Pathogenic | - | not provided [MedGen:CN517202] | |
193_ASP | TYR |
ClinVar chrX:133632685 |
-
|
Likely pathogenic | - | Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
194_TYR | CYS | VAR_006799 |
-
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
198_PHE | VAL | VAR_006800 |
rs137852486
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
198_PHE | VAL |
ClinVar chrX:133632700 |
rs137852486
|
Pathogenic; other | - | Lesch-Nyhan syndrome|HPRT NEW BRITON [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510|] | |
200_ASP | GLY | VAR_006801 |
rs137852479
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
200_ASP | ASN | VAR_006802 |
-
|
LP/P | - | Hyperuricemia, HPRT-related (HRH) [MIM:300323] | |
200_ASP | TYR | VAR_006803 |
-
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
200_ASP | GLY |
ClinVar chrX:133632707 |
rs137852479
|
Pathogenic; other | - | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency|HPRT ASHVILLE [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233|] | |
203_HIS | ASP | VAR_006804 |
rs137852490
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
203_HIS | ARG | VAR_006805 |
-
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] | |
203_HIS | ASP |
ClinVar chrX:133634060 |
rs137852490
|
Likely pathogenic | - | Lesch-Nyhan syndrome|Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510|MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510]; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233] | |
203_HIS | TYR |
ClinVar chrX:133634060 |
rs137852490
|
Likely pathogenic | - | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
203_HIS | LEU |
ClinVar chrX:133634061 |
-
|
Pathogenic | - | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [MONDO:MONDO:0010299,MedGen:C0268117,OMIM:300323,Orphanet:79233]; Lesch-Nyhan syndrome [MONDO:MONDO:0010298,MedGen:C0023374,OMIM:300322,Orphanet:510] | |
205_CYS | TYR | VAR_006806 |
-
|
LP/P | - | Lesch-Nyhan syndrome (LNS) [MIM:300322] |