OCA2 c.1342C>T ;(p.L448F)

Variant ID: 15-28230232-G-A

NM_000275.2(OCA2):c.1342C>T;(p.L448F)

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:

Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.

Pigment Cell & Melanoma Research
Zhong, Zilin Z; Gu, Li L; Zheng, Xiujie X; Ma, Nengjun N; Wu, Zehua Z; Duan, Juan J; Zhang, Jun J; Chen, Jianjun J
Publication Date: 2019-09

Variant appearance in text: OCA2: 1342C>T; Leu448Phe
PubMed Link: 31077556
Variant Present in the following documents:
  • Main text
  • PCMR-32-672.pdf
View BVdb publication page