Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
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, Familial
- Source Database
- DisGeNET
- Description
- Familial amyloidosis with polyneuropathy (FAP) is an autosomal dominant disease caused by transthyretin (TTR) mutations, of which V30M (TTR c.148G > A, p.Val50Met, Val30Met) is the most common.
- Pubmed
- 20840742
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.12868613990657
- Year of publication
- 2010
Drugs