GJB1 c.640_642delinsTAA ;(p.I214*)

Variant ID: X-70444197-ATC-TAA

NM_000166.5(GJB1):c.640_642delinsTAA;(p.I214*)

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:

What's the Function of Connexin 32 in the Peripheral Nervous System?

Frontiers In Molecular Neuroscience
Bortolozzi, Mario M
Publication Date: 2018

Variant appearance in text: GJB1: I214X
PubMed Link: 30042657
Variant Present in the following documents:
  • Main text
  • fnmol-11-00227.pdf
View BVdb publication page