Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Ile290= (p.I290=)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Ile290= (p.I290=) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form
- Source Database
- ClinVar
- Description
- NM_000083.3(CLCN1):c.870C>T (p.Ile290=) AND multiple conditions
- ClinVar Allele ID
- 3086641
- ClinVar RefSeq Alternation Syntax
- NR_046453.2:n.975C>T
- ClinVar RefSeq Alternation Syntax
- NM_000083.3:c.870C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-11-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003781258
- ClinVar Disease
- Congenital myotonia, autosomal dominant form
- ClinVar Disease
- Congenital myotonia, autosomal recessive form
- Observed Origin Sample
- germline
Drugs