Gene: HPRT1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556030169
rs1556030169
HPRT1
AT 0.700 GeneticVariation CLINVAR Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein. 28045594

2017
dbSNP: rs1228634091
rs1228634091
HPRT1
0.700 GeneticVariation UNIPROT Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration. 24940672

2014
dbSNP: rs1556030169
rs1556030169
HPRT1
AT 0.700 GeneticVariation CLINVAR HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation. 22132984

2011
dbSNP: rs1228634091
rs1228634091
HPRT1
0.700 GeneticVariation UNIPROT Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism. 20544509

2010
dbSNP: rs1228634091
rs1228634091
HPRT1
0.700 GeneticVariation UNIPROT Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations. 17027311

2007
dbSNP: rs1228634091
rs1228634091
HPRT1
0.700 GeneticVariation UNIPROT Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families. 15571223

2004
dbSNP: rs1556030169
rs1556030169
HPRT1
AT 0.700 GeneticVariation CLINVAR The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. 11018746

2000
dbSNP: rs137852489
rs137852489
HPRT1
T 0.700 CausalMutation CLINVAR Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome. 9288634

1997
dbSNP: rs1228634091
rs1228634091
HPRT1
0.700 GeneticVariation UNIPROT Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities. 7987318

1994
dbSNP: rs137852489
rs137852489
HPRT1
T 0.700 CausalMutation CLINVAR Site specificity of N-methyl-N-nitrosourea-induced transition mutations in the hprt gene. 1934271

1991
dbSNP: rs137852489
rs137852489
HPRT1
T 0.700 CausalMutation CLINVAR Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. 2347587

1990
dbSNP: rs1228634091
rs1228634091
HPRT1
0.700 GeneticVariation UNIPROT Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville). 2909537

1989
dbSNP: rs1228634091
rs1228634091
HPRT1
0.700 GeneticVariation UNIPROT Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor). 2896620

1988
dbSNP: rs1228634091
rs1228634091
HPRT1
0.700 GeneticVariation UNIPROT Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich. 3358423

1988
dbSNP: rs1228634091
rs1228634091
HPRT1
0.700 GeneticVariation UNIPROT Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects. 3198771

1988
dbSNP: rs1228634091
rs1228634091
HPRT1
0.700 GeneticVariation UNIPROT Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout. 6706936

1984
dbSNP: rs1228634091
rs1228634091
HPRT1
0.700 GeneticVariation UNIPROT Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout. 6572373

1983
dbSNP: rs1228634091
rs1228634091
HPRT1
0.700 GeneticVariation UNIPROT Human hypoxanthine-guanine phosphoribosyltransferase. 6853490

1983
dbSNP: rs137852502
rs137852502
HPRT1
G 0.700 CausalMutation CLINVAR

dbSNP: rs137852506
rs137852506
HPRT1
T 0.700 CausalMutation CLINVAR

dbSNP: rs369065223
rs369065223
HPRT1
G 0.700 CausalMutation CLINVAR

dbSNP: rs137852477
rs137852477
HPRT1
0.800 GeneticVariation UNIPROT Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration. 24940672

2014
dbSNP: rs137852478
rs137852478
HPRT1
0.800 GeneticVariation UNIPROT Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration. 24940672

2014
dbSNP: rs137852479
rs137852479
HPRT1
0.800 GeneticVariation UNIPROT Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration. 24940672

2014
dbSNP: rs137852482
rs137852482
HPRT1
0.800 GeneticVariation UNIPROT Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration. 24940672

2014