GJB1 c.836G>C ;(p.R279P)

Variant ID: X-70444393-G-C

NM_000166.5(GJB1):c.836G>C;(p.R279P)

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:

Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25

Variant appearance in text: GJB1: R279P
PubMed Link: 31345222
Variant Present in the following documents:
  • 12920_2019_543_MOESM8_ESM.xlsx, sheet 2
View BVdb publication page