Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Ala313Thr (p.A313T)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Ala313Thr (p.A313T) ( 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.937G>A (p.Ala313Thr) AND multiple conditions
- ClinVar Allele ID
- 33904
- ClinVar RefSeq Alternation Syntax
- NM_000083.3:c.937G>A
- ClinVar RefSeq Alternation Syntax
- NR_046453.2:n.1042G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-12-20
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000638231
- ClinVar Disease
- Congenital myotonia, autosomal dominant form
- ClinVar Disease
- Congenital myotonia, autosomal recessive form
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs