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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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