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DMD c.5407C>T ;(p.Q1803*)
Variant ID: X-32366564-G-A
NM_004006.2(
DMD
):c.5407C>T;(p.Q1803*)
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: 5407C>T; Gln1803*
PubMed Link:
32813700
Variant Present in the following documents:
Main text
pone.0237803.pdf
View BVdb publication page
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.
Human Genetics
Okubo, Mariko M; Noguchi, Satoru S; Hayashi, Shinichiro S; Nakamura, Harumasa H; Komaki, Hirofumi H; Matsuo, Masafumi M; Nishino, Ichizo I
Publication Date: 2020-02
Variant appearance in text: DMD: Gln1803*
PubMed Link:
31919629
Variant Present in the following documents:
Main text
439_2019_Article_2107.pdf
View BVdb publication page