Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Pro480Thr (p.P480T)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Pro480Thr (p.P480T) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- myotonia congenita
- Source Database
- DisGeNET
- Description
- A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita.
- Pubmed
- 11353420
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.387922294040807
- Year of publication
- 2001
Drugs