Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
TTR p.Val40Ile (p.V40I)
(
ENST00000237014.8,
ENST00000610404.5,
ENST00000649620.1 )
TTR p.Val40Ile (p.V40I) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 ) - Associated Disease
- Familial amyloid neuropathy
- Source Database
- ClinVar
- Description
- NM_000371.4(TTR):c.118G>A (p.Val40Ile) AND Familial amyloid neuropathy
- ClinVar Allele ID
- 28494
- ClinVar RefSeq Alternation Syntax
- NM_000371.4:c.118G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014397
- ClinVar Disease
- Familial amyloid neuropathy
- Observed Origin Sample
- germline
- Pubmed
- 9017939
- Pubmed
- 8692810
Drugs