Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Phe413Cys (p.F413C)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Phe413Cys (p.F413C) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- CLCN1-related disorder
- Source Database
- ClinVar
- Description
- NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) AND CLCN1-related disorder
- ClinVar Allele ID
- 32570
- ClinVar RefSeq Alternation Syntax
- NM_000083.3:c.1238T>G
- ClinVar RefSeq Alternation Syntax
- NR_046453.2:n.1343T>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-08-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002291268
- ClinVar Disease
- CLCN1-related disorder
- Observed Origin Sample
- germline
Drugs