Annotation Detail
Information
- Associated Genes
- CLCN1
- Associated Variants
-
CLCN1 p.Phe167Leu (p.F167L)
(
ENST00000343257.7,
ENST00000650516.2 )
CLCN1 p.Phe167Leu (p.F167L) ( ENST00000343257.7, ENST00000650516.2 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) AND not specified
- ClinVar Allele ID
- 205752
- ClinVar RefSeq Alternation Syntax
- NR_046453.2:n.603C>G
- ClinVar RefSeq Alternation Syntax
- NM_000083.3:c.501C>G
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-01-15
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000479583
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs