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
- A parallel was drawn between this unprecedented situation and that of myotonia congenita by including patients homozygous or heterozygous for the CLCN1 I556N channel mutation, which is known for incomplete dominance and penetrance.
- Pubmed
- 19882638
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.495200744836497
- Year of publication
- 2010
Drugs