GALC Chromosome 14

Galactosylceramidase
368 variants 368 Health Risk

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What This Gene Does
This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Glycoside hydrolase family
Locus Type
gene with protein product
Location
14q31.3
Ensembl
ENSG00000054983
Associated Conditions (14)
Galactosylceramide beta-galactosidase deficiency
Abnormal brain morphology
See cases
Inborn genetic diseases
GALC-related disorder
Intellectual disability
Gastric cancer
19 conditions
Abnormality of the nervous system
Acute myeloid leukemia
Melanoma
Spastic ataxia
Incidental Discovery
Fabry disease
Key Variants
RS1057516270
Conflicting classifications of pathogenicity
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
Health Risk
RS1060499761
Conflicting classifications of pathogenicity
Abnormal brain morphology, Galactosylceramide beta-galactosidase deficiency, Abnormal brain morphology
Health Risk
RS115869593
Conflicting classifications of pathogenicity
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
Health Risk
RS1200769534
Conflicting classifications of pathogenicity
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
Health Risk
RS1210612295
Conflicting classifications of pathogenicity
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
Health Risk
RS1249991480
Conflicting classifications of pathogenicity
Galactosylceramide beta-galactosidase deficiency, See cases, Galactosylceramide beta-galactosidase deficiency
Health Risk
RS1289015582
Conflicting classifications of pathogenicity
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
Health Risk
RS1308816724
Conflicting classifications of pathogenicity
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
Health Risk
RS1349064845
Conflicting classifications of pathogenicity
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
Health Risk
RS1359281521
Conflicting classifications of pathogenicity
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
Health Risk
RS1365128831
Conflicting classifications of pathogenicity
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
Health Risk
RS1428571249
Conflicting classifications of pathogenicity
Inborn genetic diseases, Galactosylceramide beta-galactosidase deficiency, Inborn genetic diseases
Health Risk
All Variants (368)
RSID Category Clinical Significance Conditions
RS571945132 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS73312829 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Inborn genetic diseases, Galactosylceramide beta-galactosidase deficiency
RS746487628 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS746806459 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS748140458 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS749233234 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS751975987 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, GALC-related disorder, Galactosylceramide beta-galactosidase deficiency
RS753217734 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS754507781 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS758904079 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS759068540 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS759110815 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS759433028 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS767913083 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Inborn genetic diseases, Galactosylceramide beta-galactosidase deficiency
RS768745262 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS769902280 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS770389075 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Intellectual disability, Galactosylceramide beta-galactosidase deficiency
RS772190761 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS773666802 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, GALC-related disorder, Galactosylceramide beta-galactosidase deficiency
RS776098499 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS776907825 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS781003161 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS886038260 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS886038261 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS886050866 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS886050867 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS887930208 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS909979938 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1009872980 Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1057516394 Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1057516632 Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1057516673 Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1057517033 Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1057517082 Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1057517187 Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1057517372 Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1057518843 Health Risk Likely pathogenic 19 conditions, Galactosylceramide beta-galactosidase deficiency, 19 conditions
RS1064795927 Health Risk Likely pathogenic —
RS1158171614 Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS11623 Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1162671660 Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1166863449 Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1168273921 Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1217139658 Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1235473172 Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1365632054 Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1376496659 Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1397152875 Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1423625765 Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1458925593 Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
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