GJB1 c.391C>T ;(p.L131=)

Variant ID: X-70443948-C-T

NM_000166.5(GJB1):c.391C>T;(p.L131=)

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:

Systematic review of CMTX1 patients with episodic neurological dysfunction.

Annals Of Clinical And Translational Neurology
Tian, Dandan D; Zhao, Yating Y; Zhu, Ruixia R; Li, Qu Q; Liu, Xu X
Publication Date: 2021-01

Variant appearance in text: CMTX1: 391C>T
PubMed Link: 33314704
Variant Present in the following documents:
  • ACN3-8-213.pdf
View BVdb publication page