GJB1 c.101_102delinsGC ;(p.M34S)

Variant ID: X-70443658-TG-GC

NM_000166.5(GJB1):c.101_102delinsGC;(p.M34S)

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:

A structural and functional comparison of gap junction channels composed of connexins and innexins.

Developmental Neurobiology
Skerrett, I Martha IM; Williams, Jamal B JB
Publication Date: 2017-05

Variant appearance in text: CMTX: M34S
PubMed Link: 27582044
Variant Present in the following documents:
  • Main text
  • DNEU-77-522.pdf
View BVdb publication page