GJB1 c.40A>G ;(p.N14D)

Variant ID: X-70443597-A-G

NM_000166.5(GJB1):c.40A>G;(p.N14D)

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:

Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.

Brain Research
Hoang Dinh, Emilie E; Ahmad, Shoeb S; Chang, Qing Q; Tang, Wenxue W; Stong, Benjamin B; Lin, Xi X
Publication Date: 2009-06-24

Variant appearance in text: GJB1: N14D
PubMed Link: 19230829
Variant Present in the following documents:
  • Main text
View BVdb publication page