Annotation Detail

Information
Associated Genes
TNNC1
Associated Variants
TNNC1 p.Asp145Glu (p.D145E) ( ENST00000232975.8 )
TNNC1 p.Asp145Glu (p.D145E) ( ENST00000232975.8 )
Source Database
ClinVar
Description
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) AND Cardiovascular phenotype
ClinVar Allele ID
27484
ClinVar RefSeq Alternation Syntax
NM_003280.3:c.435C>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2023-07-25
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000622135
Observed Origin Sample
germline
Drugs