Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
TTR p.Gly73Glu (p.G73E)
(
ENST00000237014.8,
ENST00000610404.5,
ENST00000649620.1 )
TTR p.Gly73Glu (p.G73E) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 ) - Associated Disease
- Plaque, Amyloid
- Source Database
- DisGeNET
- Description
- A sural nerve biopsy disclosed amyloid deposits, which led to the identification of a rare heterozygous transthyretin mutation (p.Glu74Gly; old classification: p.Glu54Gly).
- Pubmed
- 25471118
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0179151635573
- Year of publication
- 2014
Drugs