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
- right atrial isomerism
- Source Database
- ClinVar
- Description
- NM_001492.6(GDF1):c.909dup (p.Val304fs) AND Right atrial isomerism
- 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
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000055616
- ClinVar Disease
- Right atrial isomerism
- Observed Origin Sample
- germline
- Pubmed
- 20413652
Drugs