TYR c.1357C>T ;(p.Q453*)

Variant ID: 11-89018113-C-T

NM_000372.4(TYR):c.1357C>T;(p.Q453*)

This variant was identified in 4 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: 1357C>T; Gln453*
PubMed Link: 35803923
Variant Present in the following documents:
  • 41467_2022_31392_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Jackson, Daniel D; Malka, Samantha S; Harding, Philippa P; Palma, Juliana J; Dunbar, Hannah H; Moosajee, Mariya M
Publication Date: 2020-09

Variant appearance in text: TYR: 1357C>T; Gln453*
PubMed Link: 32830442
Variant Present in the following documents:
  • Main text
  • AJMG-184-578.pdf
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: TYR: 1357C>T; Gln453Ter
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.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: 1357C>T
PubMed Link: 28266639
Variant Present in the following documents:
  • srep44185-s1.pdf
View BVdb publication page