Annotation Detail

Information
Associated Genes
TTR
Associated Variants
TTR p.Asp38Gly (p.D38G) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Val50Ala (p.V50A) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Val50Gly (p.V50G) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Phe64Ser (p.F64S) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Gly73Glu (p.G73E) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Tyr89His (p.Y89H) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Asp38Gly (p.D38G) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Val50Ala (p.V50A) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Val50Gly (p.V50G) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Phe64Ser (p.F64S) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Gly73Glu (p.G73E) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Tyr89His (p.Y89H) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
Associated Disease
AMYLOIDOSIS, LEPTOMENINGEAL, 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