Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Met128Val (p.M128V)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Phe167Leu (p.F167L) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Ser189Phe (p.S189F) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Gly230Glu (p.G230E) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Ile290Met (p.I290M) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Ile290= (p.I290=) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg317Gln (p.R317Q) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Phe413Cys (p.F413C) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Pro480Leu (p.P480L) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Val860Ile (p.V860I) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg894= (p.R894=) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg894Ter (p.R894*) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Met128Val (p.M128V) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Phe167Leu (p.F167L) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Ser189Phe (p.S189F) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Gly230Glu (p.G230E) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Ile290Met (p.I290M) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Ile290= (p.I290=) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg317Gln (p.R317Q) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Phe413Cys (p.F413C) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Pro480Leu (p.P480L) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Val860Ile (p.V860I) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg894= (p.R894=) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg894Ter (p.R894*) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- Generalized Myotonia of Thomsen
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.495200744836497
- Year of publication
- NA
Drugs