GJB1 c.485T>C ;(p.M162T)

Variant ID: X-70444042-T-C

NM_000166.5(GJB1):c.485T>C;(p.M162T)

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:

Hand weakness in Charcot-Marie-Tooth disease 1X.

Neuromuscular Disorders : Nmd
Arthur-Farraj, P J PJ; Murphy, S M SM; Laura, M M; Lunn, M P MP; Manji, H H; Blake, J J; Ramdharry, G G; Fox, Z Z; Reilly, M M MM
Publication Date: 2012-07

Variant appearance in text: GJB1: Met162Thr
PubMed Link: 22464564
Variant Present in the following documents:
  • Main text
View BVdb publication page