TYR c.155G>C ;(p.R52T)

Variant ID: 11-88911276-G-C

NM_000372.4(TYR):c.155G>C;(p.R52T)

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:

Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.

Molecular Medicine Reports
Ko, Jung Min JM; Yang, Jung-Ah JA; Jeong, Seon-Yong SY; Kim, Hyon-Ju HJ
Publication Date: 2012-04

Variant appearance in text: OCA1: R52T
PubMed Link: 22294196
Variant Present in the following documents:
  • Main text
  • mmr-05-04-0943.pdf
View BVdb publication page