Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
TTR p.Val142Ile (p.V142I)
(
ENST00000237014.8,
ENST00000610404.5,
ENST00000649620.1 )
TTR p.Val142Ile (p.V142I) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 ) - Associated Disease
- Amyloid Cardiomyopathy, Transthyretin-related
- Source Database
- ClinVar
- Description
- NM_000371.4(TTR):c.424G>A (p.Val142Ile) AND Amyloid Cardiomyopathy, Transthyretin-related
- ClinVar Allele ID
- 28465
- ClinVar RefSeq Alternation Syntax
- NM_000371.4:c.424G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2011-08-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000030575
- ClinVar Disease
- Amyloid Cardiomyopathy, Transthyretin-related
- Observed Origin Sample
- germline
Drugs