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.




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