Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Ile556Asn (p.I556N)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Ile556Asn (p.I556N) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- Generalized Myotonia of Thomsen
- Source Database
- DisGeNET
- Description
- Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.
- Pubmed
- 9566422
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.495200744836497
- Year of publication
- 1998
Drugs