Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Arg496Ser (p.R496S)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Arg496Ser (p.R496S) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- Congenital myotonia, autosomal recessive form
- Source Database
- ClinVar
- Description
- NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser) AND Congenital myotonia, autosomal recessive form
- ClinVar Allele ID
- 32574
- ClinVar RefSeq Alternation Syntax
- NR_046453.2:n.1443G>T
- ClinVar RefSeq Alternation Syntax
- NM_000083.3:c.1488G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-07-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019087
- ClinVar Disease
- Congenital myotonia, autosomal recessive form
- Observed Origin Sample
- germline
- Pubmed
- 7951242
Drugs