DMD c.3430_3432del ;(p.Q1144del)

Variant ID: X-32481556-CCTG-C

NM_004006.2(DMD):c.3430_3432del;(p.Q1144del)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.

Plos One
Torella, Annalaura A; Zanobio, Mariateresa M; Zeuli, Roberta R; Del Vecchio Blanco, Francesca F; Savarese, Marco M; Giugliano, Teresa T; Garofalo, Arcomaria A; Piluso, Giulio G; Politano, Luisa L; Nigro, Vincenzo V
Publication Date: 2020

Variant appearance in text: DMD: Gln1144del
PubMed Link: 32813700
Variant Present in the following documents:
  • Main text
  • pone.0237803.pdf
View BVdb publication page



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: Q1144del
PubMed Link: 28610567
Variant Present in the following documents:
  • Main text
  • 12881_2017_Article_431.pdf
View BVdb publication page