Disease: Lesch-Nyhan Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556030169
rs1556030169
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease:
Lesch-Nyhan Syndrome 		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: rs1556030169
rs1556030169
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease:
Lesch-Nyhan Syndrome 		AT 0.700 GeneticVariation CLINVAR HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation. 22132984 2011
dbSNP: rs1556030169
rs1556030169
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
CUI: C0023374
Disease:
Lesch-Nyhan Syndrome 		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