GJB1 c.436_438delinsTGT ;(p.E146C)

Variant ID: X-70443993-GAG-TGT

NM_000166.5(GJB1):c.436_438delinsTGT;(p.E146C)

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:

Site-directed mutagenesis reveals putative regions of protein interaction within the transmembrane domains of connexins.

Cell Communication & Adhesion
Toloue, M M MM; Woolwine, Y Y; Karcz, J A JA; Kasperek, E M EM; Nicholson, B J BJ; Skerrett, I M IM
Publication Date: 2008-05

Variant appearance in text: CMTX: E146C
PubMed Link: 18649182
Variant Present in the following documents:
  • Main text
View BVdb publication page