TYR c.139G>A ;(p.G47S)

Variant ID: 11-88911260-G-A

NM_000372.4(TYR):c.139G>A;(p.G47S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: TYR: G47S
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.

Molecular Vision
Khordadpoor-Deilamani, Faravareh F; Akbari, Mohammad Taghi MT; Karimipoor, Morteza M; Javadi, Gholamreza G
Publication Date: 2015

Variant appearance in text: TYR: 139G>A
PubMed Link: 26167114
Variant Present in the following documents:
  • Main text
  • mv-v21-730.pdf
View BVdb publication page