Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
TTR MUTATION
TTR MUTATION
TTR p.Val50Met (p.V50M) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Val50Leu (p.V50L) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Val50Met (p.V50M) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Val50Leu (p.V50L) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 ) - Associated Disease
- AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
- Source Database
- DisGeNET
- Description
- Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.
- Pubmed
- 12050338
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.487600372418248
- Year of publication
- 2002
Drugs