HLCS Chromosome 21

Holocarboxylase synthetase
215 variants 215 Health Risk

Upload your DNA to see your personal genotypes for variants in HLCS.

What This Gene Does
This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]
Associated Conditions (4)
Holocarboxylase synthetase deficiency
HLCS-related disorder
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Key Variants
RS116985497
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, HLCS-related disorder, Holocarboxylase synthetase deficiency
Health Risk
RS1260631800
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
Health Risk
RS138209330
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
Health Risk
RS138844739
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
Health Risk
RS139902499
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
Health Risk
RS142524025
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
Health Risk
RS142621386
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
Health Risk
RS144238478
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
Health Risk
RS144705277
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
Health Risk
RS146030669
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
Health Risk
RS147474255
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
Health Risk
RS147495853
Conflicting classifications of pathogenicity
Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
Health Risk
All Variants (215)
RSID Category Clinical Significance Conditions
RS116985497 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, HLCS-related disorder, Holocarboxylase synthetase deficiency
RS1260631800 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS138209330 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS138844739 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
RS139902499 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
RS142524025 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS142621386 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
RS144238478 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
RS144705277 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
RS146030669 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS147474255 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS147495853 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS148709879 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, HLCS-related disorder, Holocarboxylase synthetase deficiency
RS148981273 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS149291867 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases, HLCS-related disorder
RS149822970 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
RS150263699 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1555885056 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1569216588 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS181989786 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS183589811 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
RS185480832 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS191115811 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, HLCS-related disorder, Holocarboxylase synthetase deficiency
RS199517800 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS200453837 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
RS200950813 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
RS2843959 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS367728041 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS368124997 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
RS370118884 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS373822815 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Holocarboxylase synthetase deficiency, Inborn genetic diseases
RS373951547 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
RS376210604 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
RS376397597 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS376903098 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
RS534858065 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
RS548505968 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS73196003 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS745652723 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
RS74574054 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS755620019 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS759178651 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS759416272 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS761147008 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
RS764148793 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS767700692 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS767988985 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS771923409 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS773398782 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases, Holocarboxylase synthetase deficiency
RS773627772 Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
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