Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
TTR p.Thr80Ala (p.T80A)
(
ENST00000237014.8,
ENST00000610404.5,
ENST00000649620.1 )
TTR p.Thr80Ala (p.T80A) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 ) - Associated Disease
- Familial amyloid neuropathy
- Source Database
- ClinVar
- Description
- NM_000371.4(TTR):c.238A>G (p.Thr80Ala) AND Familial amyloid neuropathy
- ClinVar Allele ID
- 28460
- ClinVar RefSeq Alternation Syntax
- NM_000371.4:c.238A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014363
- ClinVar Disease
- Familial amyloid neuropathy
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 4079954
- Pubmed
- 12050338
- Pubmed
- 2981253
- Pubmed
- 3676699
- Pubmed
- 2122246
- Pubmed
- 1664269
- Pubmed
- 3722385
- Pubmed
- 2840822
- Pubmed
- 1626556
Drugs