TYR c.826T>C ;(p.C276R)

Variant ID: 11-88924376-T-C

NM_000372.4(TYR):c.826T>C;(p.C276R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.

Nature Communications
Michaud, Vincent V; Lasseaux, Eulalie E; Green, David J DJ; Gerrard, Dave T DT; Plaisant, Claudio C; , ; Fitzgerald, Tomas T; Birney, Ewan E; Arveiler, BenoƮt B; Black, Graeme C GC; Sergouniotis, Panagiotis I PI
Publication Date: 2022-07-08

Variant appearance in text: TYR: 826T>C
PubMed Link: 35803923
Variant Present in the following documents:
  • 41467_2022_31392_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Genes
Ullah, Muhammad Ikram MI
Publication Date: 2022-06-16

Variant appearance in text: TYR: 826T>C
PubMed Link: 35741834
Variant Present in the following documents:
  • genes-13-01072.pdf
View BVdb publication page



Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.

Frontiers In Genetics
Bibi, Nousheen N; Ullah, Asmat A; Darwesh, Lubna L; Khan, Waqas W; Khan, Tanzeela T; Ullah, Kalim K; Khan, Bushra B; Ahmad, Wasim W; ,
Publication Date: 2020

Variant appearance in text: TYR: 826T>C
PubMed Link: 32849781
Variant Present in the following documents:
  • Main text
  • fgene-11-00749.pdf
View BVdb publication page