TYR c.308G>A ;(p.C103Y)

Variant ID: 11-88911429-G-A

NM_000372.4(TYR):c.308G>A;(p.C103Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 308G>A
PubMed Link: 35741834
Variant Present in the following documents:
  • genes-13-01072.pdf
View BVdb publication page



Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families.

Eye (London, England)
Shakil, Muhammad M; Harlalka, Gaurav V GV; Ali, Shamshad S; Lin, Siying S; D'Atri, Ilaria I; Hussain, Shabbir S; Nasir, Abdul A; Shahzad, Muhammad Aiman MA; Ullah, Muhammad Ikram MI; Self, Jay E JE; Baple, Emma L EL; Crosby, Andrew H AH; Mahmood, Saqib S
Publication Date: 2019-08

Variant appearance in text: TYR: 308G>A
PubMed Link: 30996339
Variant Present in the following documents:
  • Main text
View BVdb publication page