GJB1 c.225del ;(p.L76Cfs*8)

Variant ID: X-70443780-CG-C

NM_000166.5(GJB1):c.225del;(p.L76Cfs*8)

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:

Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease.

Bmc Neurology
Braathen, Geir J GJ; Sand, Jette C JC; Bukholm, Geir G; Russell, Michael B MB
Publication Date: 2007-07-09

Variant appearance in text: CMTX: 225delG
PubMed Link: 17620124
Variant Present in the following documents:
  • Main text
  • 1471-2377-7-19.pdf
View BVdb publication page