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MYBPC3 c.2890G>C ;(p.V964L)
Variant ID: 11-47356608-C-G
NM_000256.3(
MYBPC3
):c.2890G>C;(p.V964L)
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:
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I
Publication Date: 2019-06
Variant appearance in text: MYBPC3: Val964Leu
PubMed Link:
30847666
Variant Present in the following documents:
12471_2019_1250_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page