Annotation Detail
Information
- Associated Genes
- CDAN1
- Associated Variants
-
CDAN1 p.Asn599Ser (p.N599S)
(
ENST00000356231.4 )
CDAN1 p.Asn599Ser (p.N599S) ( ENST00000356231.4 ) - Associated Disease
- Congenital dyserythropoietic anemia, type I
- Source Database
- ClinVar
- Description
- NM_138477.4(CDAN1):c.1796A>G (p.Asn599Ser) AND Congenital dyserythropoietic anemia, type I
- ClinVar Allele ID
- 18217
- ClinVar RefSeq Alternation Syntax
- NM_138477.4:c.1796A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2003-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003328
- ClinVar Disease
- Congenital dyserythropoietic anemia, type I
- Observed Origin Sample
- germline
- Pubmed
- 12434312
- Pubmed
- 12825070
Drugs