Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Arg976Ter (p.R976*)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Arg976Ter (p.R976*) ( 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.2926C>T (p.Arg976Ter) AND multiple conditions
- ClinVar Allele ID
- 196430
- ClinVar RefSeq Alternation Syntax
- NR_046453.2:n.2881C>T
- ClinVar RefSeq Alternation Syntax
- NM_000083.3:c.2926C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-09-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000535831
- ClinVar Disease
- Congenital myotonia, autosomal dominant form
- ClinVar Disease
- Congenital myotonia, autosomal recessive form
- Observed Origin Sample
- germline
Drugs