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MYBPC3 c.1009G>C ;(p.A337P)
Variant ID: 11-47367839-C-G
NM_000256.3(
MYBPC3
):c.1009G>C;(p.A337P)
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:
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Biophysical Reviews
Brodehl, Andreas A; Gaertner-Rommel, Anna A; Milting, Hendrik H
Publication Date: 2018-08
Variant appearance in text: MYBPC3: A337P
PubMed Link:
29926427
Variant Present in the following documents:
Main text
View BVdb publication page
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013
Variant appearance in text: CMH4: A337P
PubMed Link:
23819521
Variant Present in the following documents:
1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page