TYR c.1132C>T ;(p.Q378*)

Variant ID: 11-88961086-C-T

NM_000372.4(TYR):c.1132C>T;(p.Q378*)

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:

Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

The Journal Of Investigative Dermatology
Hutton, Saunie M SM; Spritz, Richard A RA
Publication Date: 2008-10

Variant appearance in text: OCA1: 1132C>T
PubMed Link: 18463683
Variant Present in the following documents:
  • Main text
View BVdb publication page