Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Phe167Leu (p.F167L)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Phe167Leu (p.F167L) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- Becker Generalized Myotonia
- Source Database
- DisGeNET
- Description
- Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.
- Pubmed
- 7874130
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.321357209360402
- Year of publication
- 1994
Drugs