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 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000371.4(TTR):c.328C>A (p.His110Asn) AND not specified
Observed Origin Sample
germline
ClinVar Allele ID
28466
ClinVar RefSeq Alternation Syntax
NM_000371.4:c.328C>A
Clinical Significance Description
Benign
Clinical Significance Last Update
2022-06-23
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000152541
ClinVar Disease
not specified
Drugs