HID1

HID1 domain containing

Summary

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]

Known Variants61 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14734679617:72,947,672C/T—likely benign
rs75253652817:72,947,725A/T—uncertain significance
rs118078903017:72,948,036C/A—uncertain significance
rs14566643617:72,948,130G/A—uncertain significance
rs254446907917:72,948,146A/C—uncertain significance
rs14361715717:72,948,416T/C—uncertain significance
rs203931667217:72,948,452G/C—uncertain significance
rs124874328517:72,948,455C/T—uncertain significance
rs11508256717:72,949,111G/A—uncertain significance
rs75253204817:72,949,151G/A—likely pathogenic
rs134323659517:72,949,166A/G—uncertain significance
rs78012666317:72,949,172G/T—uncertain significance
rs52801547317:72,949,174C/A—uncertain significance
rs203934130917:72,949,719T/G—uncertain significance
rs127430606817:72,950,289C/T—uncertain significance
rs57144876917:72,950,325G/T—uncertain significance
rs77430034317:72,950,331G/C—uncertain significance
rs20056625817:72,950,349C/T—uncertain significance
rs76344282317:72,950,353G/A—uncertain significance
rs105479747117:72,950,431G/A—uncertain significance
rs254447583817:72,951,917A/G—uncertain significance
rs254447598017:72,951,964A/G—uncertain significance
rs127640296317:72,952,023C/T—uncertain significance
rs74605173217:72,952,051A/G—uncertain significance
rs56128213217:72,952,912C/T——
rs78147163217:72,954,245C/T—uncertain significance
rs14527751117:72,954,285G/A—likely benign
rs14915985617:72,954,450G/T—uncertain significance
rs100063202517:72,954,464G/T—uncertain significance
rs74658496017:72,954,477C/T—uncertain significance
rs118226070717:72,954,501C/T—uncertain significance
rs75964211817:72,954,502G/A—uncertain significance
rs99447338517:72,954,517G/A—pathogenic
rs254447993317:72,954,537A/C—uncertain significance
rs77012000617:72,954,846A/G—uncertain significance
rs7336308817:72,954,999G/A—benign
rs214481035917:72,955,005C/A—likely pathogenic
rs37263733017:72,955,010T/C—uncertain significance
rs75627296217:72,955,126C/A—uncertain significance
rs75748882417:72,955,147C/A—conflicting classifications of pathogenicity
rs75393197017:72,955,993G/A—uncertain significance
rs132105403817:72,956,150T/G—uncertain significance
rs13996369017:72,956,202G/T—likely benign
rs254448387917:72,956,233A/G—uncertain significance
rs76662348117:72,956,243G/A—uncertain significance
rs95412147317:72,956,279C/G—uncertain significance
rs91242983917:72,956,296T/C—uncertain significance
rs254448415317:72,956,341T/C—uncertain significance
rs14748911417:72,958,366G/A—benign
rs130495051217:72,958,368G/A—uncertain significance
rs203949468417:72,958,380C/T—pathogenic
rs14120870817:72,958,431G/A—uncertain significance
rs75278820217:72,959,073C/T—uncertain significance
rs136305093317:72,959,128G/A—uncertain significance
rs13793212917:72,959,146G/A—uncertain significance
rs6054936617:72,959,176G/C—benign
rs75990819417:72,959,962G/A—uncertain significance
rs75802577517:72,960,642G/A—uncertain significance
rs37485979817:72,960,669G/A—uncertain significance
rs14424002717:72,960,697C/T—uncertain significance
rs77581271217:72,960,705G/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.