HKDC1 Chromosome 10
Hexokinase domain containing 1
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What This Gene Does
This gene encodes a member of the hexokinase protein family. The encoded protein is involved in glucose metabolism, and reduced expression may be associated with gestational diabetes mellitus. High expression of this gene may also be associated with poor prognosis in hepatocarcinoma. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
Hexokinase family
Locus Type
gene with protein product
Location
10q22.1
Ensembl
ENSG00000156510
Associated Conditions (3)
Nonsyndromic cleft lip palate
Retinitis pigmentosa 92
Short stature
Key Variants
RS201518882
Conflicting classifications of pathogenicity
Nonsyndromic cleft lip palate, Retinitis pigmentosa 92, Nonsyndromic cleft lip palate
Health Risk
RS142379141
Likely pathogenic
Retinitis pigmentosa 92, Retinitis pigmentosa 92
Health Risk
RS148723879
Likely pathogenic
Short stature, Short stature
Health Risk
RS1564726619
Likely pathogenic
Short stature, Short stature
Health Risk
RS2539897956
Likely pathogenic
Retinitis pigmentosa 92, Retinitis pigmentosa 92
Health Risk
RS2539918923
Likely pathogenic
Retinitis pigmentosa 92, Retinitis pigmentosa 92
Health Risk
RS759709025
Likely pathogenic
Nonsyndromic cleft lip palate, Nonsyndromic cleft lip palate
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201518882 | Health Risk | Conflicting classifications of pathogenicity | Nonsyndromic cleft lip palate, Retinitis pigmentosa 92, Nonsyndromic cleft lip palate |
| RS142379141 | Health Risk | Likely pathogenic | Retinitis pigmentosa 92, Retinitis pigmentosa 92 |
| RS148723879 | Health Risk | Likely pathogenic | Short stature, Short stature |
| RS1564726619 | Health Risk | Likely pathogenic | Short stature, Short stature |
| RS2539897956 | Health Risk | Likely pathogenic | Retinitis pigmentosa 92, Retinitis pigmentosa 92 |
| RS2539918923 | Health Risk | Likely pathogenic | Retinitis pigmentosa 92, Retinitis pigmentosa 92 |
| RS759709025 | Health Risk | Likely pathogenic | Nonsyndromic cleft lip palate, Nonsyndromic cleft lip palate |