Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
TTR p.Cys30Arg (p.C30R)
(
ENST00000237014.8,
ENST00000610404.5,
ENST00000649620.1 )
TTR p.Cys30Arg (p.C30R) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 ) - Associated Disease
- Familial amyloid neuropathy
- Source Database
- ClinVar
- Description
- NM_000371.4(TTR):c.88T>C (p.Cys30Arg) AND Familial amyloid neuropathy
- ClinVar Allele ID
- 28483
- ClinVar RefSeq Alternation Syntax
- NM_000371.4:c.88T>C
- Clinical Significance Description
- Pathogenic/Likely 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/RCV000014386
- ClinVar Disease
- Familial amyloid neuropathy
- Observed Origin Sample
- germline
- Pubmed
- 1362222
Drugs