GJB1 c.439del ;(p.A147Pfs*49)

Variant ID: X-70443994-AG-A

NM_000166.5(GJB1):c.439del;(p.A147Pfs*49)

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:

New evidence for secondary axonal degeneration in demyelinating neuropathies.

Neuroscience Letters
Moss, Kathryn R KR; Bopp, Taylor S TS; Johnson, Anna E AE; Höke, Ahmet A
Publication Date: 2021-01-23

Variant appearance in text: GJB1: A147PfsX49
PubMed Link: 33359733
Variant Present in the following documents:
  • Main text
View BVdb publication page