Annotation Detail
Information
- Associated Genes
- CDAN1
- Associated Variants
-
CDAN1 p.Pro1130Leu (p.P1130L)
(
ENST00000356231.4 )
CDAN1 p.Pro1130Leu (p.P1130L) ( ENST00000356231.4 ) - Associated Disease
- Anemia, congenital dyserythropoietic, type 1a
- Source Database
- ClinVar
- Description
- NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu) AND Anemia, congenital dyserythropoietic, type 1a
- ClinVar Allele ID
- 18216
- ClinVar RefSeq Alternation Syntax
- NM_138477.4:c.3389C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-12-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001839408
- ClinVar Disease
- Anemia, congenital dyserythropoietic, type 1a
- Observed Origin Sample
- germline
- Observed Origin Sample
- paternal
Drugs