CDIN1 Chromosome 15
CDAN1 interacting nuclease 1
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What This Gene Does
This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Associated Conditions (1)
Congenital dyserythropoietic anemia type type 1B
Key Variants
RS369346271
Conflicting classifications of pathogenicity
Health Risk
RS587777101
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia type type 1B, Congenital dyserythropoietic anemia type type 1B, Congenital dyserythropoietic anemia type type 1B
Health Risk
RS1595503440
Likely pathogenic
Congenital dyserythropoietic anemia type type 1B, Congenital dyserythropoietic anemia type type 1B
Health Risk
RS587777100
Likely pathogenic
Congenital dyserythropoietic anemia type type 1B, Congenital dyserythropoietic anemia type type 1B
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS369346271 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS587777101 | Health Risk | Conflicting classifications of pathogenicity | Congenital dyserythropoietic anemia type type 1B, Congenital dyserythropoietic anemia type type 1B, Congenital dyserythropoietic anemia type type 1B |
| RS1595503440 | Health Risk | Likely pathogenic | Congenital dyserythropoietic anemia type type 1B, Congenital dyserythropoietic anemia type type 1B |
| RS587777100 | Health Risk | Likely pathogenic | Congenital dyserythropoietic anemia type type 1B, Congenital dyserythropoietic anemia type type 1B |