Annotation Detail

Information
Associated Genes
TNNI3
Associated Variants
TNNI3 p.Ala2Val (p.A2V) ( ENST00000344887.10, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1 )
TNNI3 p.Ala2Val (p.A2V) ( ENST00000344887.10, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) AND not provided
ClinVar Allele ID
52567
ClinVar RefSeq Alternation Syntax
NM_000363.5:c.5C>T
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2021-07-28
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001753445
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs