GRIN2A c.4264G>A ;(p.V1422M)

Variant ID: 16-9857137-C-T

NM_001134407.1(GRIN2A):c.4264G>A;(p.V1422M)

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:

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.

Human Molecular Genetics
Carss, Keren J KJ; Hillman, Sarah C SC; Parthiban, Vijaya V; McMullan, Dominic J DJ; Maher, Eamonn R ER; Kilby, Mark D MD; Hurles, Matthew E ME
Publication Date: 2014-06-15

Variant appearance in text: GRIN2A: 4264G>A
PubMed Link: 24476948
Variant Present in the following documents:
  • Main text
View BVdb publication page