OCA2 c.2433G>T ;(p.R811S)

Variant ID: 15-28000618-C-A

NM_000275.2(OCA2):c.2433G>T;(p.R811S)

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:

Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

The Journal Of Molecular Diagnostics : Jmd
Crowgey, Erin L EL; Washburn, Michael C MC; Kolb, E Anders EA; Puffenberger, Erik G EG
Publication Date: 2019-07

Variant appearance in text: OCA2: 2433G>T; Arg811Ser
PubMed Link: 31028937
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page