DMD c.4342_4344del ;(p.Q1448del)

Variant ID: X-32408188-CCTG-C

NM_004006.2(DMD):c.4342_4344del;(p.Q1448del)

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:

MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India.

Bmc Medical Genetics
Deepha, Sekar S; Vengalil, Seena S; Preethish-Kumar, Veeramani V; Polavarapu, Kiran K; Nalini, Atchayaram A; Gayathri, Narayanappa N; Purushottam, Meera M
Publication Date: 2017-06-13

Variant appearance in text: DMD: Q1448del
PubMed Link: 28610567
Variant Present in the following documents:
  • Main text
  • 12881_2017_Article_431.pdf
View BVdb publication page