Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
TTR p.Ser70Gly (p.S70G)
(
ENST00000237014.8,
ENST00000610404.5,
ENST00000649620.1 )
TTR p.Ser70Gly (p.S70G) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 ) - Associated Disease
- Familial amyloid neuropathy
- Source Database
- ClinVar
- Description
- NM_000371.4(TTR):c.208A>G (p.Ser70Gly) AND Familial amyloid neuropathy
- ClinVar Allele ID
- 1899624
- ClinVar RefSeq Alternation Syntax
- NM_000371.4:c.208A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-05-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003100652
- ClinVar Disease
- Familial amyloid neuropathy
- Observed Origin Sample
- germline
Drugs