Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Ala531Val (p.A531V)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Ala531Val (p.A531V) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) AND not provided
- ClinVar Allele ID
- 33892
- ClinVar RefSeq Alternation Syntax
- NR_046453.2:n.1547C>T
- ClinVar RefSeq Alternation Syntax
- NM_000083.3:c.1592C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-07-07
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000711222
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs