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OCA2 c.1513T>G ;(p.F505V)
Variant ID: 15-28211959-A-C
NM_000275.2(
OCA2
):c.1513T>G;(p.F505V)
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: F505V
PubMed Link:
28838317
Variant Present in the following documents:
12886_2017_549_MOESM4_ESM.pdf
12886_2017_549_MOESM3_ESM.pdf
View BVdb publication page