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.




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