GJB1 c.403T>G ;(p.Y135D)

Variant ID: X-70443960-T-G

NM_000166.5(GJB1):c.403T>G;(p.Y135D)

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:

Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.

Annals Of Clinical And Translational Neurology
Hsu, Yun-Hsin YH; Lin, Kon-Ping KP; Guo, Yuh-Cherng YC; Tsai, Yu-Shuen YS; Liao, Yi-Chu YC; Lee, Yi-Chung YC
Publication Date: 2019-06

Variant appearance in text: GJB1: 403T>G; Y135D
PubMed Link: 31211173
Variant Present in the following documents:
  • Main text
  • ACN3-6-1090.pdf
View BVdb publication page