Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
TTR p.His110Asn (p.H110N)
(
ENST00000237014.8,
ENST00000610404.5,
ENST00000649620.1 )
TTR p.His110Asn (p.H110N) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 ) - Source Database
- ClinVar
- Description
- NM_000371.4(TTR):c.328C>A (p.His110Asn) AND Cardiovascular phenotype
- ClinVar Allele ID
- 28466
- ClinVar RefSeq Alternation Syntax
- NM_000371.4:c.328C>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2017-10-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000621211
- Observed Origin Sample
- germline
Drugs