DMD c.1672_1673delinsTG ;(p.L558C)

Variant ID: X-32591893-AG-CA

NM_004006.2(DMD):c.1672_1673delinsTG;(p.L558C)

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:

Mapping allosteric linkage to channel gating by extracellular domains in the human epithelial sodium channel.

The Journal Of Biological Chemistry
Shobair, Mahmoud M; Popov, Konstantin I KI; Dang, Yan L YL; He, Hong H; Stutts, M Jackson MJ; Dokholyan, Nikolay V NV
Publication Date: 2018-03-09

Variant appearance in text: DMD: L558C
PubMed Link: 29358325
Variant Present in the following documents:
  • Main text
View BVdb publication page