Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
TTR p.Glu62Gly (p.E62G)
(
ENST00000237014.8,
ENST00000610404.5,
ENST00000649620.1 )
TTR p.Glu62Gly (p.E62G) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 ) - Associated Disease
- carpal tunnel syndrome
- Source Database
- DisGeNET
- Description
- We report the identification of a new transthyretin (TTR) gene mutation and variant protein, Glu61Gly, in a 55-year-old man with progressive cardiomyopathy, mild peripheral neuropathy and bilateral carpal tunnel syndrome.
- Pubmed
- 17453626
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.246795978323672
- Year of publication
- 2007
Drugs