Annotation Detail
Information
- Associated Genes
- TNNI3
- Associated Variants
-
TNNI3 p.Lys206Gln (p.K206Q)
(
ENST00000588882.1,
ENST00000344887.10,
ENST00000665070.1,
ENST00000714236.1,
ENST00000714237.1,
ENST00000714238.1,
ENST00000714240.1 )
TNNI3 p.Lys206Gln (p.K206Q) ( ENST00000344887.10, ENST00000588882.1, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1, ENST00000714240.1 ) - Associated Disease
- hypertrophic cardiomyopathy 7
- Source Database
- ClinVar
- Description
- NM_000363.5(TNNI3):c.616A>C (p.Lys206Gln) AND Hypertrophic cardiomyopathy 7
- ClinVar Allele ID
- 27459
- ClinVar RefSeq Alternation Syntax
- NM_000363.5:c.616A>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1997-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013232
- ClinVar Disease
- Hypertrophic cardiomyopathy 7
- Observed Origin Sample
- germline
- Pubmed
- 9241277
Drugs