Annotation Detail

Information
Associated Genes
TTR
Associated Variants
TTR p.Val142Ile (p.V142I) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Val142Ile (p.V142I) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
Associated Disease
Amyloid Cardiomyopathy, Transthyretin-related
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.12
Year of publication
NA
Drugs