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 )
Associated Disease: Familial amyloid neuropathy
Source Database: ClinVar
Description: NM_000371.4(TTR):c.311T>G (p.Ile104Ser) AND Familial amyloid neuropathy
ClinVar Allele ID: 28462
ClinVar RefSeq Alternation Syntax: NM_000371.4:c.311T>G
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2024-01-21
Clinical Significance Review Status: criteria provided, single submitter
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000014365
ClinVar Disease: Familial amyloid neuropathy
Observed Origin Sample: germline
Pubmed: 13367520
Pubmed: 2510740
Pubmed: 3760189
Pubmed: 4884226
Pubmed: 11261421
Pubmed: 2840822
Pubmed: 2877582
Pubmed: 9547003

Drugs