DMD c.220_221delinsTA ;(p.L74*)

Variant ID: X-32862943-AG-TA

NM_004006.2(DMD):c.220_221delinsTA;(p.L74*)

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:

DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

Human Mutation
Gurvich, Olga L OL; Maiti, Baijayanta B; Weiss, Robert B RB; Aggarwal, Gaurav G; Howard, Michael T MT; Flanigan, Kevin M KM
Publication Date: 2009-04

Variant appearance in text: DMD: L74X
PubMed Link: 19206170
Variant Present in the following documents:
  • Main text
View BVdb publication page