Annotation Detail

Information

Associated Genes: TTR
Associated Variants: TTR p.Leu78His (p.L78H) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Leu78His (p.L78H) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
Associated Disease: Familial amyloid neuropathy
Source Database: ClinVar
Description: NM_000371.4(TTR):c.233T>A (p.Leu78His) AND Familial amyloid neuropathy
ClinVar Allele ID: 28459
ClinVar RefSeq Alternation Syntax: NM_000371.4:c.233T>A
Clinical Significance Description: Pathogenic/Likely pathogenic
Clinical Significance Last Update: 2024-01-31
Clinical Significance Review Status: criteria provided, multiple submitters, no conflicts
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000014362
ClinVar Disease: Familial amyloid neuropathy
Observed Origin Sample: germline
Observed Origin Sample: paternal
Pubmed: 13367520
Pubmed: 14404854
Pubmed: 4884226
Pubmed: 2360796
Pubmed: 2613237
Pubmed: 4952599
Pubmed: 8990019
Pubmed: 11261421
Pubmed: 7018469
Pubmed: 1729888
Pubmed: 13593935
Pubmed: 19644733

Drugs