Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Ser189Phe (p.S189F)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Ser189Phe (p.S189F) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000083.3(CLCN1):c.566C>T (p.Ser189Phe) AND not specified
- ClinVar Allele ID
- 32587
- ClinVar RefSeq Alternation Syntax
- NM_000083.3:c.566C>T
- ClinVar RefSeq Alternation Syntax
- NR_046453.2:n.668C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-09-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003387727
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs