Annotation Detail
Information
- Associated Genes
- TYR
- Associated Variants
-
TYR p.Cys55Tyr (p.C55Y)
(
ENST00000263321.6 )
TYR p.Cys55Ser (p.C55S) ( ENST00000263321.6 )
TYR p.Arg299His (p.R299H) ( ENST00000263321.6 )
TYR p.Cys55Tyr (p.C55Y) ( ENST00000263321.6 )
TYR p.Cys55Ser (p.C55S) ( ENST00000263321.6 )
TYR p.Arg299His (p.R299H) ( ENST00000263321.6 ) - Associated Disease
- Oculocutaneous albinism type 1
- Source Database
- DisGeNET
- Description
- Although tyrosinase mutations of OCA1 have been extensively analyzed in most populations worldwide, there is no systemic study of OCA1 mutation in Chinese patients.
- Pubmed
- 10571953
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.573300651731935
- Year of publication
- 1999
Drugs