GJB1 c.367C>T ;(p.H123Y)

Variant ID: X-70443924-C-T

NM_000166.5(GJB1):c.367C>T;(p.H123Y)

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:

GJB1 Mutation-A Disease Spectrum: Report of Case Series.

Frontiers In Neurology
Niu, Jingwen J; Dai, Yi Y; Liu, Mingsheng M; Li, Yi Y; Ding, Qingyun Q; Guan, Yuzhou Y; Cui, Liying L; Jin, Liri L
Publication Date: 2019

Variant appearance in text: GJB1: His123Tyr
PubMed Link: 32010055
Variant Present in the following documents:
  • Main text
  • fneur-10-01406.pdf
View BVdb publication page