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TYR c.539A>G ;(p.H180R)
Variant ID: 11-88911660-A-G
NM_000372.4(
TYR
):c.539A>G;(p.H180R)
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:
Functional in silico analysis of human tyrosinase and OCA1 associated mutations.
Journal Of Analytical & Pharmaceutical Research
Patel, Milan M; Sergeev, Yuri Y
Publication Date: 2020
Variant appearance in text: OCA1: H180R
PubMed Link:
33458560
Variant Present in the following documents:
Main text
nihms-1637382.pdf
View BVdb publication page
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
Plos One
Ghodsinejad Kalahroudi, Vadieh V; Kamalidehghan, Behnam B; Arasteh Kani, Ahoura A; Aryani, Omid O; Tondar, Mahdi M; Ahmadipour, Fatemeh F; Chung, Lip Yong LY; Houshmand, Massoud M
Publication Date: 2014
Variant appearance in text: TYR: 539A>G
PubMed Link:
25216246
Variant Present in the following documents:
Main text
pone.0106656.pdf
View BVdb publication page