Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Glu291Lys (p.E291K)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Glu291Lys (p.E291K) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- Congenital myotonia, autosomal recessive form
- Source Database
- ClinVar
- Description
- NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) AND Congenital myotonia, autosomal recessive form
- ClinVar Allele ID
- 32580
- ClinVar RefSeq Alternation Syntax
- NM_000083.3:c.871G>A
- ClinVar RefSeq Alternation Syntax
- NR_046453.2:n.976G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-07-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019093
- ClinVar Disease
- Congenital myotonia, autosomal recessive form
- Observed Origin Sample
- germline
- Pubmed
- 11933197
Drugs