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
RS1057516270 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1060499761 Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Galactosylceramide beta-galactosidase deficiency, Abnormal brain morphology
RS115869593 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1200769534 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1210612295 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1249991480 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, See cases, Galactosylceramide beta-galactosidase deficiency
RS1289015582 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1308816724 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1349064845 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1359281521 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1365128831 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1428571249 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Galactosylceramide beta-galactosidase deficiency, Inborn genetic diseases
RS1428763453 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS146286491 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, GALC-related disorder, Galactosylceramide beta-galactosidase deficiency
RS147313927 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1555383498 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1566993126 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, See cases, Inborn genetic diseases
RS181066089 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS183105855 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, GALC-related disorder, Galactosylceramide beta-galactosidase deficiency
RS185943390 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1884501856 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1884762471 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1884764241 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1886495923 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1886782078 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS190921137 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, GALC-related disorder, Galactosylceramide beta-galactosidase deficiency
RS199967869 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, GALC-related disorder, Galactosylceramide beta-galactosidase deficiency
RS200219480 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS200605515 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS200607029 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Inborn genetic diseases, Galactosylceramide beta-galactosidase deficiency
RS201422931 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, See cases, Galactosylceramide beta-galactosidase deficiency
RS2139925505 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139925538 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139996434 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2140016054 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503362421 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2503372037 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS34134328 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, GALC-related disorder, Galactosylceramide beta-galactosidase deficiency
RS370117160 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Inborn genetic diseases, Galactosylceramide beta-galactosidase deficiency
RS372285275 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Inborn genetic diseases, Galactosylceramide beta-galactosidase deficiency
RS372465848 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, GALC-related disorder, Galactosylceramide beta-galactosidase deficiency
RS373587692 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Intellectual disability, GALC-related disorder
RS376662045 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS376675180 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS398123176 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS529469325 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Galactosylceramide beta-galactosidase deficiency, Inborn genetic diseases
RS532800656 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS534598133 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Inborn genetic diseases, Galactosylceramide beta-galactosidase deficiency
RS561184126 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Gastric cancer, Galactosylceramide beta-galactosidase deficiency
RS564526560 Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, GALC-related disorder, Galactosylceramide beta-galactosidase deficiency
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