Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
TTR p.Val50Met (p.V50M)
(
ENST00000237014.8,
ENST00000610404.5,
ENST00000649620.1 )
TTR p.Val50Met (p.V50M) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 ) - Associated Disease
- carpal tunnel syndrome 1 Hyperthyroxinemia, dystransthyretinemic Familial amyloid neuropathy
- Source Database
- ClinVar
- Description
- NM_000371.4(TTR):c.148G>A (p.Val50Met) AND multiple conditions
- ClinVar Allele ID
- 28456
- ClinVar RefSeq Alternation Syntax
- NM_000371.4:c.148G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-12-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002476964
- ClinVar Disease
- Hyperthyroxinemia, dystransthyretinemic
- ClinVar Disease
- Familial amyloid neuropathy
- ClinVar Disease
- Carpal tunnel syndrome 1
- Observed Origin Sample
- unknown
Drugs