Annotation Detail
Information
- Associated Genes
- TTR
- Associated Variants
-
TTR p.Val142del (p.V142del)
(
ENST00000237014.8,
ENST00000610404.5,
ENST00000649620.1 )
TTR p.Val142del (p.V142del) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Cys30Arg (p.C30R) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Leu32Pro (p.L32P) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Asp38Gly (p.D38G) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Val40Ile (p.V40I) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ala45Thr (p.A45T) ( 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 )
TTR p.Val50Ala (p.V50A) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Val50Gly (p.V50G) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Phe53Ile (p.F53I) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Phe53Leu (p.F53L) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ala56Pro (p.A56P) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Glu62Gly (p.E62G) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Phe64Ser (p.F64S) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Gly67Arg (p.G67R) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Gly67Arg (p.G67R) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Gly67Ala (p.G67A) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Thr69Ala (p.T69A) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ser70Arg (p.S70R) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ser70Gly (p.S70G) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ser70Asn (p.S70N) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ser70Ile (p.S70I) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ser70Arg (p.S70R) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ser70Arg (p.S70R) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Leu75Pro (p.L75P) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Leu78His (p.L78H) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Leu78Arg (p.L78R) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Thr80Ala (p.T80A) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Glu81Lys (p.E81K) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Phe84Leu (p.F84L) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ile88Leu (p.I88L) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Lys90Asn (p.K90N) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Val91Ala (p.V91A) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ser97Tyr (p.S97Y) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ile104Ser (p.I104S) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Glu109Gln (p.E109Q) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.His110Asn (p.H110N) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ala117Ser (p.A117S) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ala117Gly (p.A117G) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Arg124His (p.R124H) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ile127Val (p.I127V) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Leu131Met (p.L131M) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Tyr134Cys (p.Y134C) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Val142Ile (p.V142I) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Cys30Arg (p.C30R) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Leu32Pro (p.L32P) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Asp38Gly (p.D38G) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Val40Ile (p.V40I) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ala45Thr (p.A45T) ( 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 )
TTR p.Val50Ala (p.V50A) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Val50Gly (p.V50G) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Phe53Ile (p.F53I) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Phe53Leu (p.F53L) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ala56Pro (p.A56P) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Glu62Gly (p.E62G) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Phe64Ser (p.F64S) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Gly67Arg (p.G67R) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Gly67Arg (p.G67R) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Gly67Ala (p.G67A) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Thr69Ala (p.T69A) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ser70Arg (p.S70R) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ser70Gly (p.S70G) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ser70Asn (p.S70N) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ser70Ile (p.S70I) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ser70Arg (p.S70R) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ser70Arg (p.S70R) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Leu75Pro (p.L75P) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Leu78His (p.L78H) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Leu78Arg (p.L78R) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Thr80Ala (p.T80A) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Glu81Lys (p.E81K) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Phe84Leu (p.F84L) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ile88Leu (p.I88L) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Lys90Asn (p.K90N) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Val91Ala (p.V91A) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ser97Tyr (p.S97Y) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ile104Ser (p.I104S) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Glu109Gln (p.E109Q) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.His110Asn (p.H110N) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ala117Ser (p.A117S) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ala117Gly (p.A117G) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Arg124His (p.R124H) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Ile127Val (p.I127V) ( ENST00000237014.8, ENST00000649620.1, ENST00000610404.5 )
TTR p.Leu131Met (p.L131M) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Tyr134Cys (p.Y134C) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 )
TTR p.Val142Ile (p.V142I) ( ENST00000237014.8, ENST00000610404.5, ENST00000649620.1 ) - Associated Disease
- AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.487600372418248
- Year of publication
- NA
Drugs