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DMD c.4510C>T ;(p.H1504Y)
Variant ID: X-32407626-G-A
NM_004006.2(
DMD
):c.4510C>T;(p.H1504Y)
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:
Angiosarcoma heterogeneity and potential therapeutic vulnerability to immune checkpoint blockade: insights from genomic sequencing.
Genome Medicine
Boichard, Amélie A; Wagner, Michael J MJ; Kurzrock, Razelle R
Publication Date: 2020-07-09
Variant appearance in text: DMD: 4510C>T; H1504Y
PubMed Link:
32646514
Variant Present in the following documents:
13073_2020_753_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.
The Journal Of Molecular Diagnostics : Jmd
Torella, Annalaura A; Trimarco, Amelia A; Blanco, Francesca Del Vecchio Fdel V; Cuomo, Anna A; Aurino, Stefania S; Piluso, Giulio G; Minetti, Carlo C; Politano, Luisa L; Nigro, Vincenzo V
Publication Date: 2010-01
Variant appearance in text: DMD: H1504Y
PubMed Link:
19959795
Variant Present in the following documents:
Main text
View BVdb publication page