OCA2 c.977G>A ;(p.S326N)

Variant ID: 15-28259989-C-T

NM_000275.2(OCA2):c.977G>A;(p.S326N)

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:

Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.

Bmc Ophthalmology
Wang, Xinjing X; Zein, Wadih M WM; D'Souza, Leera L; Roberson, Chimere C; Wetherby, Keith K; He, Hong H; Villarta, Angela A; Turriff, Amy A; Johnson, Kory R KR; Fann, Yang C YC
Publication Date: 2017-08-24

Variant appearance in text: OCA2: 977G>A
PubMed Link: 28838317
Variant Present in the following documents:
  • 12886_2017_549_MOESM3_ESM.pdf
View BVdb publication page