Annotation Detail

Information
Associated Genes
MYBPC3
Associated Variants
MYBPC3 p.Ile154Thr (p.I154T) ( ENST00000399249.6, ENST00000545968.6 )
MYBPC3 p.Ile154Thr (p.I154T) ( ENST00000399249.6, ENST00000545968.6 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr) AND not provided
ClinVar Allele ID
51926
ClinVar RefSeq Alternation Syntax
NM_000256.3:c.461T>C
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2016-03-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000786367
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs