TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: Albinism, Oculocutaneous ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61754375
rs61754375
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		0.010 GeneticVariation BEFREE Genetic analysis was subsequently conducted, and the results revealed the p. (Arg778Leu) mutation in 1 allele and the p. (Asn1270Ser) mutation in the other allele of the ATP7B gene, confirming the diagnosis of WD; the p. (D456fs) mutation in 1 allele and the p. (R299H) mutation in the other allele of the TYR gene, confirming the diagnosis of OCA. 30558096 2018