Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Arg894= (p.R894=)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Arg894= (p.R894=) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form
- Source Database
- ClinVar
- Description
- NM_000083.3(CLCN1):c.2680C>A (p.Arg894=) AND multiple conditions
- ClinVar Allele ID
- 1096139
- ClinVar RefSeq Alternation Syntax
- NM_000083.3:c.2680C>A
- ClinVar RefSeq Alternation Syntax
- NR_046453.2:n.2635C>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-03-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001437288
- ClinVar Disease
- Congenital myotonia, autosomal dominant form
- ClinVar Disease
- Congenital myotonia, autosomal recessive form
- Observed Origin Sample
- germline
Drugs