Annotation Detail
Information
- Associated Genes
- TNNI3
- Associated Variants
-
TNNI3 p.Arg186Gln (p.R186Q)
(
ENST00000344887.10,
ENST00000588882.1,
ENST00000665070.1,
ENST00000714236.1,
ENST00000714237.1,
ENST00000714238.1,
ENST00000714240.1 )
TNNI3 p.Arg186Gln (p.R186Q) ( ENST00000344887.10, ENST00000588882.1, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1, ENST00000714240.1 ) - Associated Disease
- hypertrophic cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) AND Hypertrophic cardiomyopathy
- ClinVar Allele ID
- 52565
- ClinVar RefSeq Alternation Syntax
- NM_000363.5:c.557G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-18
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000167988
- ClinVar Disease
- Hypertrophic cardiomyopathy
- Observed Origin Sample
- germline
Drugs