Annotation Detail

Information
Associated Genes
MYBPC3
Associated Variants
MYBPC3 p.Thr958Ile (p.T958I) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Thr958Ile (p.T958I) ( ENST00000399249.6, ENST00000545968.6 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile) AND not specified
ClinVar Allele ID
51834
ClinVar RefSeq Alternation Syntax
NM_000256.3:c.2873C>T
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2016-07-20
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000035535
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs