GJB1 c.227T>C ;(p.L76P)

Variant ID: X-70443784-T-C

NM_000166.5(GJB1):c.227T>C;(p.L76P)

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: Leu76Pro
PubMed Link: 33314704
Variant Present in the following documents:
  • Main text
  • ACN3-8-213.pdf
View BVdb publication page