HID1 Chromosome 17
HID1 domain containing
Upload your DNA to see your personal genotypes for variants in HID1.
What This Gene Does
Predicted to act upstream of or within several processes, including insulin processing; secretory granule maturation; and vacuole fusion, non-autophagic. Located in Golgi apparatus; cytoplasmic microtubule; and cytosol. Implicated in developmental and epileptic encephalopathy 105. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (3)
Inborn genetic diseases
See cases
Developmental and epileptic encephalopathy 105 with hypopituitarism
Key Variants
RS757488824
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2144810359
Likely pathogenic
See cases, See cases
Health Risk
RS752532048
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2039300041
Pathogenic
Developmental and epileptic encephalopathy 105 with hypopituitarism, Developmental and epileptic encephalopathy 105 with hypopituitarism
Health Risk
RS2039494684
Pathogenic
Developmental and epileptic encephalopathy 105 with hypopituitarism, Developmental and epileptic encephalopathy 105 with hypopituitarism
Health Risk
RS2144812065
Pathogenic
Health Risk
RS2144822115
Pathogenic
See cases, See cases
Health Risk
RS994473385
Pathogenic
Developmental and epileptic encephalopathy 105 with hypopituitarism, Developmental and epileptic encephalopathy 105 with hypopituitarism
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS757488824 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2144810359 | Health Risk | Likely pathogenic | See cases, See cases |
| RS752532048 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2039300041 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 105 with hypopituitarism, Developmental and epileptic encephalopathy 105 with hypopituitarism |
| RS2039494684 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 105 with hypopituitarism, Developmental and epileptic encephalopathy 105 with hypopituitarism |
| RS2144812065 | Health Risk | Pathogenic | — |
| RS2144822115 | Health Risk | Pathogenic | See cases, See cases |
| RS994473385 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 105 with hypopituitarism, Developmental and epileptic encephalopathy 105 with hypopituitarism |