TYR c.265T>A ;(p.C89S)

Variant ID: 11-88911386-T-A

NM_000372.4(TYR):c.265T>A;(p.C89S)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).

Plos One
Ghodsinejad Kalahroudi, Vadieh V; Kamalidehghan, Behnam B; Arasteh Kani, Ahoura A; Aryani, Omid O; Tondar, Mahdi M; Ahmadipour, Fatemeh F; Chung, Lip Yong LY; Houshmand, Massoud M
Publication Date: 2014

Variant appearance in text: TYR: 265T>A
PubMed Link: 25216246
Variant Present in the following documents:
  • Main text
  • pone.0106656.pdf
View BVdb publication page