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MYBPC3 c.2063C>A ;(p.T688K)
Variant ID: 11-47361206-G-T
NM_000256.3(
MYBPC3
):c.2063C>A;(p.T688K)
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:
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: 2063C>A; Thr688Lys; rs3729946
PubMed Link:
30847666
Variant Present in the following documents:
12471_2019_1250_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
Genome Medicine
Kobayashi, Yuya Y; Yang, Shan S; Nykamp, Keith K; Garcia, John J; Lincoln, Stephen E SE; Topper, Scott E SE
Publication Date: 2017-02-06
Variant appearance in text: MYBPC3: 2063C>A; Thr688Lys
PubMed Link:
28166811
Variant Present in the following documents:
Main text
13073_2017_Article_403.pdf
View BVdb publication page