Annotation Detail

Information
Associated Genes
TNNC1
Associated Variants
TNNC1 p.Gly159Asp (p.G159D) ( ENST00000232975.8 )
TNNC1 p.Gly159Asp (p.G159D) ( ENST00000232975.8 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_003280.3(TNNC1):c.476G>A (p.Gly159Asp) AND not provided
ClinVar Allele ID
27480
ClinVar RefSeq Alternation Syntax
NM_003280.3:c.476G>A
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2020-01-13
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000523060
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs