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MYBPC3 c.2153del ;(p.L718Rfs*36)
Variant ID: 11-47360226-CA-C
NM_000256.3(
MYBPC3
):c.2153del;(p.L718Rfs*36)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
Journal Of The American College Of Cardiology
Coppini, Raffaele R; Ho, Carolyn Y CY; Ashley, Euan E; Day, Sharlene S; Ferrantini, Cecilia C; Girolami, Francesca F; Tomberli, Benedetta B; Bardi, Sara S; Torricelli, Francesca F; Cecchi, Franco F; Mugelli, Alessandro A; Poggesi, Corrado C; Tardiff, Jil J; Olivotto, Iacopo I
Publication Date: 2014-12-23
Variant appearance in text: MYBPC3: 2153del; Leu718ArgfsX36
PubMed Link:
25524337
Variant Present in the following documents:
mmc1.pdf
View BVdb publication page