DMD c.3669_3681del ;(p.S1223Rfs*5)

Variant ID: X-32466678-CTTGAGCTATGACA-C

NM_004006.2(DMD):c.3669_3681del;(p.S1223Rfs*5)

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:

MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing.

Cold Spring Harbor Molecular Case Studies
Marttila, Minttu M; Win, Wathone W; Al-Ghamdi, Fouad F; Abdel-Hamid, Hoda Z HZ; Lacomis, David D; Beggs, Alan H AH
Publication Date: 2019-08

Variant appearance in text: DMD: 3669_3681del
PubMed Link: 31127036
Variant Present in the following documents:
  • Main text
  • MCS004184Mar.pdf
View BVdb publication page