Annotation Detail

Information
Associated Genes
MYBPC3
Associated Variants
MYBPC3 p.Asp610Asn (p.D610N) ( ENST00000545968.6, ENST00000399249.6 )
MYBPC3 p.Asp610Asn (p.D610N) ( ENST00000399249.6, ENST00000545968.6 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) AND not specified
ClinVar Allele ID
51745
ClinVar RefSeq Alternation Syntax
NM_000256.3:c.1828G>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2010-09-10
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000035442
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs