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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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