Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Gly190Ser (p.G190S)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Gly190Ser (p.G190S) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg105Cys (p.R105C) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Phe167Leu (p.F167L) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Glu291Lys (p.E291K) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg317Gln (p.R317Q) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Phe413Cys (p.F413C) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg496Ser (p.R496S) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Gly499Arg (p.G499R) ( ENST00000650516.2, ENST00000343257.7 )
CLCN1 p.Arg894= (p.R894=) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg894Ter (p.R894*) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Pro932Leu (p.P932L) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg105Cys (p.R105C) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Phe167Leu (p.F167L) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Glu291Lys (p.E291K) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg317Gln (p.R317Q) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Phe413Cys (p.F413C) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg496Ser (p.R496S) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Gly499Arg (p.G499R) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg894= (p.R894=) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Arg894Ter (p.R894*) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Pro932Leu (p.P932L) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- Becker Generalized Myotonia
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.321357209360402
- Year of publication
- NA
Drugs