COL4A5 c.839C>T ;(p.P280L)

Variant ID: X-107823916-C-T

NM_033380.2(COL4A5):c.839C>T;(p.P280L)

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:

Channelopathies of skeletal muscle excitability.

Comprehensive Physiology
Cannon, Stephen C SC
Publication Date: 2015-04

Variant appearance in text: ATS: P280L
PubMed Link: 25880512
Variant Present in the following documents:
  • Main text
View BVdb publication page