DIP2C Chromosome 10
DIP2 acetate--CoA ligase C (putative)
Upload your DNA to see your personal genotypes for variants in DIP2C.
What This Gene Does
This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
"MicroRNA protein coding host genes|DIP2 family"
Locus Type
gene with protein product
Location
10p15.3
Ensembl
ENSG00000151240
Associated Conditions (3)
Inborn genetic diseases
DIP2C-related disorder
DIP2C-associated disorder
Key Variants
RS139119358
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149699277
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS151164098
Conflicting classifications of pathogenicity
Inborn genetic diseases, DIP2C-related disorder, Inborn genetic diseases
Health Risk
RS188555552
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1954570162
Conflicting classifications of pathogenicity
DIP2C-associated disorder, DIP2C-associated disorder
Health Risk
RS200158282
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS376730549
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS752352624
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS778121403
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2132627975
Likely pathogenic
Health Risk
RS2540549307
Pathogenic
Health Risk
RS2540664011
Pathogenic
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139119358 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149699277 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS151164098 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, DIP2C-related disorder, Inborn genetic diseases |
| RS188555552 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1954570162 | Health Risk | Conflicting classifications of pathogenicity | DIP2C-associated disorder, DIP2C-associated disorder |
| RS200158282 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376730549 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752352624 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778121403 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2132627975 | Health Risk | Likely pathogenic | — |
| RS2540549307 | Health Risk | Pathogenic | — |
| RS2540664011 | Health Risk | Pathogenic | — |