Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Gln552Arg (p.Q552R)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Gln552Leu (p.Q552L) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Gln552Arg (p.Q552R) ( ENST00000343257.7, ENST00000650516.2 )
CLCN1 p.Gln552Leu (p.Q552L) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- Myotonia levior
- Source Database
- DisGeNET
- Description
- We report a CLCN1 Gln-552-Arg substitution for a family with dominant inheritance previously diagnosed to have myotonia levior.
- Pubmed
- 7581380
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.12027144187208
- Year of publication
- 1995
Drugs