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DMD c.3430C>T ;(p.Q1144*)
Variant ID: X-32481558-G-A
NM_004006.2(
DMD
):c.3430C>T;(p.Q1144*)
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:
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: 3430C>T; Gln1144*
PubMed Link:
31919629
Variant Present in the following documents:
Main text
439_2019_Article_2107.pdf
View BVdb publication page
In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.
Nucleic Acids Research
Sahashi, Kentaro K; Masuda, Akio A; Matsuura, Tohru T; Shinmi, Jun J; Zhang, Zhujun Z; Takeshima, Yasuhiro Y; Matsuo, Masafumi M; Sobue, Gen G; Ohno, Kinji K
Publication Date: 2007
Variant appearance in text: DMD: Q1144X
PubMed Link:
17726045
Variant Present in the following documents:
nar_gkm647_2.pdf
View BVdb publication page