TYR c.1534C>T ;(p.Q512*)

Variant ID: 11-89028478-C-T

NM_000372.4(TYR):c.1534C>T;(p.Q512*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05

Variant appearance in text: TYR: 1534C>T
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1
View BVdb publication page



Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Scientific Reports
Shahzad, Mohsin M; Yousaf, Sairah S; Waryah, Yar M YM; Gul, Hadia H; Kausar, Tasleem T; Tariq, Nabeela N; Mahmood, Umair U; Ali, Muhammad M; Khan, Muzammil A MA; Waryah, Ali M AM; Shaikh, Rehan S RS; Riazuddin, Saima S; Ahmed, Zubair M ZM; ,
Publication Date: 2017-03-07

Variant appearance in text: TYR: 1534C>T
PubMed Link: 28266639
Variant Present in the following documents:
  • Main text
  • srep44185.pdf
  • srep44185-s1.pdf
View BVdb publication page