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
- Charcot-Marie-Tooth disease
- Source Database
- ClinVar
- Description
- NM_000371.4(TTR):c.238A>G (p.Thr80Ala) AND Charcot-Marie-Tooth disease
- ClinVar Allele ID
- 28460
- ClinVar RefSeq Alternation Syntax
- NM_000371.4:c.238A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001173293
- ClinVar Disease
- Charcot-Marie-Tooth disease
- Observed Origin Sample
- germline
Drugs