GJB1 c.304G>A ;(p.E102K)

Variant ID: X-70443861-G-A

NM_000166.5(GJB1):c.304G>A;(p.E102K)

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:

The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology
Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J
Publication Date: 2021-07

Variant appearance in text: GJB1: E102K
PubMed Link: 33482222
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
View BVdb publication page