Bibliome.ai browser hg19
Search
About
Stats
FAQ
GJB1 c.195T>G ;(p.Y65*)
Variant ID: X-70443752-T-G
NM_000166.5(
GJB1
):c.195T>G;(p.Y65*)
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: Tyr65X
PubMed Link:
22464564
Variant Present in the following documents:
Main text
View BVdb publication page