Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Arg894Ter (p.R894*)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Arg894Ter (p.R894*) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- Congenital myotonia, autosomal dominant form
- Source Database
- ClinVar
- Description
- NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) AND Congenital myotonia, autosomal dominant form
- Pubmed
- 18337100
- Pubmed
- 11840191
- ClinVar Allele ID
- 32584
- ClinVar RefSeq Alternation Syntax
- NR_046453.2:n.2635C>T
- ClinVar RefSeq Alternation Syntax
- NM_000083.3:c.2680C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-09-26
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019099
- ClinVar Disease
- Congenital myotonia, autosomal dominant form
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 8533761
- Pubmed
- 11933197
Drugs