Annotation Detail

Information

Associated Genes: TTR
Associated Variants: TTR p.Val142Ile (p.V142I) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Val142Ile (p.V142I) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
Associated Disease: Familial amyloid neuropathy
Source Database: ClinVar
Description: NM_000371.4(TTR):c.424G>A (p.Val142Ile) AND Familial amyloid neuropathy
ClinVar Allele ID: 28465
ClinVar RefSeq Alternation Syntax: NM_000371.4:c.424G>A
Clinical Significance Description: Pathogenic
Clinical Significance Last Update: 2024-03-26
Clinical Significance Review Status: criteria provided, multiple submitters, no conflicts
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000014368
ClinVar Disease: Familial amyloid neuropathy
Observed Origin Sample: germline
Observed Origin Sample: unknown
Pubmed: 1351039
Pubmed: 12874414
Pubmed: 2646319
Pubmed: 2349941
Pubmed: 3229002
Pubmed: 2063870
Pubmed: 7868124
Pubmed: 11385707
Pubmed: 11752419
Pubmed: 8698351
Pubmed: 1358785
Pubmed: 2002274
Pubmed: 12050338
Pubmed: 3030336
Pubmed: 11752443
Pubmed: 3627183
Pubmed: 2320592
Pubmed: 3934968
Pubmed: 25551524

Drugs