DOLK Chromosome 9
Dolichol kinase
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What This Gene Does
The protein encoded by this gene catalyzes the CTP-mediated phosphorylation of dolichol, and is involved in the synthesis of Dol-P-Man, which is an essential glycosyl carrier lipid for C- and O-mannosylation, N- and O-linked glycosylation of proteins, and for the biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum. Mutations in this gene are associated with dolichol kinase deficiency.[provided by RefSeq, Apr 2010]
Associated Conditions (4)
DK1-congenital disorder of glycosylation
Cardiovascular phenotype
DOLK-related disorder
Hypertrophic cardiomyopathy 26
Key Variants
RS1156844272
Conflicting classifications of pathogenicity
DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation
Health Risk
RS1294629921
Conflicting classifications of pathogenicity
Cardiovascular phenotype, DK1-congenital disorder of glycosylation, Cardiovascular phenotype
Health Risk
RS1324713631
Conflicting classifications of pathogenicity
DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation
Health Risk
RS1366267146
Conflicting classifications of pathogenicity
DK1-congenital disorder of glycosylation, DK1-congenital disorder of glycosylation
Health Risk
RS138453255
Conflicting classifications of pathogenicity
DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DOLK-related disorder
Health Risk
RS138962748
Conflicting classifications of pathogenicity
DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation
Health Risk
RS139787271
Conflicting classifications of pathogenicity
DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DOLK-related disorder
Health Risk
RS1401485925
Conflicting classifications of pathogenicity
DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation
Health Risk
RS143641133
Conflicting classifications of pathogenicity
DK1-congenital disorder of glycosylation, Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
Health Risk
RS144209926
Conflicting classifications of pathogenicity
DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation
Health Risk
RS145292760
Conflicting classifications of pathogenicity
DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation
Health Risk
RS145310298
Conflicting classifications of pathogenicity
DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1156844272 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS1294629921 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, DK1-congenital disorder of glycosylation, Cardiovascular phenotype |
| RS1324713631 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS1366267146 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, DK1-congenital disorder of glycosylation |
| RS138453255 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DOLK-related disorder |
| RS138962748 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS139787271 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DOLK-related disorder |
| RS1401485925 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS143641133 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, Hypertrophic cardiomyopathy 26 |
| RS144209926 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS145292760 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS145310298 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS146395561 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS147416890 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS147647278 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS148118523 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS148171062 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DOLK-related disorder |
| RS148646968 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS148930043 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS17485436 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS189623590 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS200278288 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS201027607 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS201629680 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS28365522 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DOLK-related disorder |
| RS368251332 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, DK1-congenital disorder of glycosylation, Cardiovascular phenotype |
| RS374860681 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DOLK-related disorder |
| RS563156233 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS574290806 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DOLK-related disorder |
| RS750368652 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS769241947 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS777998210 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DOLK-related disorder |
| RS886063514 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, DK1-congenital disorder of glycosylation |
| RS919111760 | Health Risk | Conflicting classifications of pathogenicity | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |
| RS2131127437 | Health Risk | Likely pathogenic | — |
| RS387907030 | Health Risk | Likely pathogenic | DK1-congenital disorder of glycosylation, DK1-congenital disorder of glycosylation |
| RS761604406 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS766645192 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS137853109 | Health Risk | Pathogenic | DK1-congenital disorder of glycosylation, DK1-congenital disorder of glycosylation |
| RS137853110 | Health Risk | Pathogenic | DK1-congenital disorder of glycosylation, DK1-congenital disorder of glycosylation |
| RS1564545929 | Health Risk | Pathogenic | DK1-congenital disorder of glycosylation, DK1-congenital disorder of glycosylation |
| RS1564546510 | Health Risk | Pathogenic | DK1-congenital disorder of glycosylation, DK1-congenital disorder of glycosylation |
| RS727503904 | Health Risk | Pathogenic | — |
| RS760691868 | Health Risk | Pathogenic | DK1-congenital disorder of glycosylation, DK1-congenital disorder of glycosylation |
| RS587777137 | Health Risk | Pathogenic/Likely pathogenic | DK1-congenital disorder of glycosylation, Cardiovascular phenotype, DK1-congenital disorder of glycosylation |