GJB1 c.278T>C ;(p.M93T)

Variant ID: X-70443835-T-C

NM_000166.5(GJB1):c.278T>C;(p.M93T)

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:

Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations.

Frontiers In Neurology
Liu, Xiaoxuan X; Duan, Xiaohui X; Zhang, Yingshuang Y; Sun, Aping A; Fan, Dongsheng D
Publication Date: 2020

Variant appearance in text: CMTX1: M93T
PubMed Link: 32903794
Variant Present in the following documents:
  • Main text
  • fneur-11-00690.pdf
View BVdb publication page