Bibliome.ai browser hg19
Search
About
Stats
FAQ
GJB1 c.162C>G ;(p.N54K)
Variant ID: X-70443719-C-G
NM_000166.5(
GJB1
):c.162C>G;(p.N54K)
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: N54K
PubMed Link:
19230829
Variant Present in the following documents:
Main text
View BVdb publication page