Annotation Detail
Information
- Associated Genes
- CDAN1
- Associated Variants
-
CDAN1 p.Asp1043Val (p.D1043V)
(
ENST00000356231.4 )
CDAN1 p.Asp1043Val (p.D1043V) ( ENST00000356231.4 ) - Associated Disease
- Congenital dyserythropoietic anemia, type I
- Source Database
- ClinVar
- Description
- NM_138477.4(CDAN1):c.3128A>T (p.Asp1043Val) AND Congenital dyserythropoietic anemia, type I
- ClinVar Allele ID
- 34602
- ClinVar RefSeq Alternation Syntax
- NM_138477.4:c.3128A>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-12-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000020957
- ClinVar Disease
- Congenital dyserythropoietic anemia, type I
- Observed Origin Sample
- germline
Drugs