|
rs137852485
|
|
Arthritis, Gouty
|
|
0.010 |
GeneticVariation
|
BEFREE |
This new binding site is closely related to the Gout arthritis-linked human HGPRT mutation site (Ser103Arg).
|
26968365 |
2016 |
|
rs137852497
|
|
Lobular Neoplasia
|
|
0.010 |
GeneticVariation
|
BEFREE |
A nonsense mutation caused by a 508C-->T transition at a CpG site in HPRT exon 7 in the second patient and his younger brother is the fifth mutation of this kind among LN patients.
|
9799086 |
1998 |
|
rs1135401801
|
|
Lesch-Nyhan Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs1228634091
|
|
Gout, HPRT-Related
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
|
24940672 |
2014 |
|
rs1228634091
|
|
Gout, HPRT-Related
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
|
20544509 |
2010 |
|
rs1228634091
|
|
Gout, HPRT-Related
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.
|
17027311 |
2007 |
|
rs1228634091
|
|
Gout, HPRT-Related
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
|
15571223 |
2004 |
|
rs1228634091
|
|
Gout, HPRT-Related
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities.
|
7987318 |
1994 |
|
rs1228634091
|
|
Gout, HPRT-Related
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).
|
2909537 |
1989 |
|
rs1228634091
|
|
Gout, HPRT-Related
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).
|
2896620 |
1988 |
|
rs1228634091
|
|
Gout, HPRT-Related
|
|
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 |
|
rs1228634091
|
|
Gout, HPRT-Related
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects.
|
3198771 |
1988 |
|
rs1228634091
|
|
Gout, HPRT-Related
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout.
|
6706936 |
1984 |
|
rs1228634091
|
|
Gout, HPRT-Related
|
|
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 |
|
rs1228634091
|
|
Gout, HPRT-Related
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Human hypoxanthine-guanine phosphoribosyltransferase.
|
6853490 |
1983 |
|
rs137852489
|
|
Lesch-Nyhan Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
|
9288634 |
1997 |
|
rs137852489
|
|
Gout, HPRT-Related
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
|
9288634 |
1997 |
|
rs137852489
|
|
Lesch-Nyhan Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Site specificity of N-methyl-N-nitrosourea-induced transition mutations in the hprt gene.
|
1934271 |
1991 |
|
rs137852489
|
|
Gout, HPRT-Related
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Site specificity of N-methyl-N-nitrosourea-induced transition mutations in the hprt gene.
|
1934271 |
1991 |
|
rs137852489
|
|
Gout, HPRT-Related
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.
|
2347587 |
1990 |
|
rs137852489
|
|
Lesch-Nyhan Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families.
|
2347587 |
1990 |
|
rs137852494
|
|
Lesch-Nyhan Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs137852495
|
|
Lesch-Nyhan Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
|
24940672 |
2014 |
|
rs137852495
|
|
Lesch-Nyhan Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
|
20544509 |
2010 |
|
rs137852495
|
|
Lesch-Nyhan Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.
|
17027311 |
2007 |