Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
TTR p.Ile104Ser (p.I104S)
(
ENST00000237014.8,
ENST00000610404.5,
ENST00000649620.1 )
TTR p.Ile104Ser (p.I104S) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 ) - Source Database
- ClinVar
- Description
- NM_000371.4(TTR):c.311T>G (p.Ile104Ser) AND Cardiovascular phenotype
- ClinVar Allele ID
- 28462
- ClinVar RefSeq Alternation Syntax
- NM_000371.4:c.311T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-06-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002321479
- Observed Origin Sample
- germline
Drugs