GJB1 c.281A>C ;(p.H94P)

Variant ID: X-70443838-A-C

NM_000166.5(GJB1):c.281A>C;(p.H94P)

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:

Gap junctions in inherited human disorders of the central nervous system.

Biochimica Et Biophysica Acta
Abrams, Charles K CK; Scherer, Steven S SS
Publication Date: 2012-08

Variant appearance in text: GJB1: H94P
PubMed Link: 21871435
Variant Present in the following documents:
  • Main text
View BVdb publication page