Annotation Detail
Information
- Associated Genes
- GDF1 CERS1
- Associated Variants
-
CERS1 c.*1174_*1175insC, GDF1 p.Val304ArgfsTer48 (p.V304Rfs*48)
(
ENST00000247005.8,
ENST00000623882.4 )
CERS1 c.*1174_*1175insC, GDF1 p.Val304ArgfsTer48 (p.V304Rfs*48) ( ENST00000247005.8, ENST00000623882.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001492.6(GDF1):c.909dup (p.Val304fs) AND not provided
- ClinVar Allele ID
- 76323
- ClinVar RefSeq Alternation Syntax
- NM_001492.6:c.909dup
- ClinVar RefSeq Alternation Syntax
- NM_021267.5:c.*1178dup
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-09-28
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001311505
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs