Annotation Detail
Information
- Associated Genes
- CDAN1
- Associated Variants
-
CDAN1 p.Pro672Leu (p.P672L)
(
ENST00000356231.4 )
CDAN1 p.Pro672Leu (p.P672L) ( ENST00000356231.4 ) - Associated Disease
- Anemia, congenital dyserythropoietic, type 1a
- Source Database
- ClinVar
- Description
- NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) AND Anemia, congenital dyserythropoietic, type 1a
- ClinVar Allele ID
- 18218
- ClinVar RefSeq Alternation Syntax
- NM_138477.4:c.2015C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-03-28
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002466391
- ClinVar Disease
- Anemia, congenital dyserythropoietic, type 1a
- Observed Origin Sample
- germline
Drugs