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TYR c.1453G>A ;(p.G485R)
Variant ID: 11-89028397-G-A
NM_000372.4(
TYR
):c.1453G>A;(p.G485R)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.
Molecular Vision
Renugadevi, Kathirvel K; Sil, Asim Kumar AK; Perumalsamy, Vijayalakshmi V; Sundaresan, Periasamy P
Publication Date: 2010-08-09
Variant appearance in text: TYR: 1453G>A
PubMed Link:
20806075
Variant Present in the following documents:
Main text
mv-v16-1514.pdf
View BVdb publication page