Annotation Detail
Information
- Associated Genes
- CDAN1
- Associated Variants
-
CDAN1 c.1860+5G>A
(
ENST00000356231.4 )
CDAN1 c.1860+5G>A ( ENST00000356231.4 ) - Associated Disease
- Congenital dyserythropoietic anemia, type I
- Source Database
- ClinVar
- Description
- NM_138477.4(CDAN1):c.1860+5G>A AND Congenital dyserythropoietic anemia, type I
- ClinVar Allele ID
- 18220
- ClinVar RefSeq Alternation Syntax
- NM_138477.4:c.1860+5G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003331
- ClinVar Disease
- Congenital dyserythropoietic anemia, type I
- Observed Origin Sample
- germline
- Pubmed
- 16098079
Drugs