OCA2 c.734G>A ;(p.G245E)

Variant ID: 15-28263616-C-T

NM_000275.2(OCA2):c.734G>A;(p.G245E)

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:

Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.

Disease Markers
Perfilyeva, Anastassiya A; Bespalova, Kira K; Perfilyeva, Yuliya Y; Skvortsova, Liliya L; Musralina, Lyazzat L; Zhunussova, Gulnur G; Khussainova, Elmira E; Iskakova, Ulzhan U; Bekmanov, Bakhytzhan B; Djansugurova, Leyla L
Publication Date: 2022

Variant appearance in text: OCA2: 734G>A
PubMed Link: 36199823
Variant Present in the following documents:
  • DM2022-1509994.pdf
View BVdb publication page