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DMD c.4843A>T ;(p.K1615*)
Variant ID: X-32398629-T-A
NM_004006.2(
DMD
):c.4843A>T;(p.K1615*)
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:
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
Journal Of The American Heart Association
van Waning, Jaap I JI; Moesker, Joost J; Heijsman, Daphne D; Boersma, Eric E; Majoor-Krakauer, Danielle D
Publication Date: 2019-12-03
Variant appearance in text: DMD: 4843A>T; Lys1615*
PubMed Link:
31771441
Variant Present in the following documents:
JAH3-8-e012993.pdf
JAH3-8-e012993-s001.pdf
View BVdb publication page
Left ventricular noncompaction cardiomyopathy in Duchenne muscular dystrophy carriers.
Journal Of Cardiology Cases
Parent, John J JJ; Moore, Ryan A RA; Taylor, Michael D MD; Towbin, Jeffrey A JA; Jefferies, John L JL
Publication Date: 2015-01
Variant appearance in text: DMD: 4843A>T
PubMed Link:
30546524
Variant Present in the following documents:
Main text
View BVdb publication page