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MYBPC3 c.3614_3615delinsAT ;(p.R1205H)
Variant ID: 11-47354129-CC-AT
NM_000256.3(
MYBPC3
):c.3614_3615delinsAT;(p.R1205H)
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:
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Human Genetics
Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H
Publication Date: 2013-10
Variant appearance in text: MYBPC3: Arg1205His
PubMed Link:
23820649
Variant Present in the following documents:
Main text
439_2013_Article_1331.pdf
View BVdb publication page