FUCA1 Chromosome 1

Alpha-L-fucosidase 1
81 variants 81 Health Risk

Upload your DNA to see your personal genotypes for variants in FUCA1.

What This Gene Does
The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Alpha-L-fucosidases
Locus Type
gene with protein product
Location
1p36.11
Ensembl
ENSG00000179163
Associated Conditions (5)
Fucosidosis
Inborn genetic diseases
Intellectual disability
FUCA1-related disorder
Abnormality of the nervous system
Key Variants
RS138378067
Conflicting classifications of pathogenicity
Fucosidosis, Inborn genetic diseases, Fucosidosis
Health Risk
RS1395597191
Conflicting classifications of pathogenicity
Fucosidosis, Fucosidosis
Health Risk
RS140932886
Conflicting classifications of pathogenicity
Fucosidosis, Fucosidosis
Health Risk
RS145153173
Conflicting classifications of pathogenicity
Fucosidosis, Fucosidosis
Health Risk
RS1483687600
Conflicting classifications of pathogenicity
Fucosidosis, Fucosidosis
Health Risk
RS150062050
Conflicting classifications of pathogenicity
Fucosidosis, Intellectual disability, FUCA1-related disorder
Health Risk
RS1639604269
Conflicting classifications of pathogenicity
Fucosidosis, Fucosidosis
Health Risk
RS199675692
Conflicting classifications of pathogenicity
Fucosidosis, Fucosidosis
Health Risk
RS2070955
Conflicting classifications of pathogenicity
Fucosidosis, Fucosidosis
Health Risk
RS370453371
Conflicting classifications of pathogenicity
Fucosidosis, FUCA1-related disorder, Fucosidosis
Health Risk
RS533240590
Conflicting classifications of pathogenicity
Fucosidosis, Inborn genetic diseases, Fucosidosis
Health Risk
RS61996282
Conflicting classifications of pathogenicity
Fucosidosis, Fucosidosis
Health Risk
All Variants (81)
RSID Category Clinical Significance Conditions
RS138378067 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Inborn genetic diseases, Fucosidosis
RS1395597191 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS140932886 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS145153173 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS1483687600 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS150062050 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Intellectual disability, FUCA1-related disorder
RS1639604269 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS199675692 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS2070955 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS370453371 Health Risk Conflicting classifications of pathogenicity Fucosidosis, FUCA1-related disorder, Fucosidosis
RS533240590 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Inborn genetic diseases, Fucosidosis
RS61996282 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS752480853 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fucosidosis, Inborn genetic diseases
RS753232669 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS771229488 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS776913133 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS864309552 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS886046326 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS1057521087 Health Risk Likely pathogenic —
RS1250037816 Health Risk Likely pathogenic Fucosidosis, Fucosidosis
RS1335019385 Health Risk Likely pathogenic Fucosidosis, Fucosidosis
RS1570692560 Health Risk Likely pathogenic Fucosidosis, Fucosidosis
RS1639468949 Health Risk Likely pathogenic Fucosidosis, Abnormality of the nervous system, Fucosidosis
RS1639470403 Health Risk Likely pathogenic Fucosidosis, Fucosidosis
RS2521616187 Health Risk Likely pathogenic Fucosidosis, Fucosidosis
RS2521760820 Health Risk Likely pathogenic Fucosidosis, Fucosidosis
RS781660340 Health Risk Likely pathogenic Fucosidosis, Fucosidosis
RS80358199 Health Risk Likely pathogenic Fucosidosis, Fucosidosis
RS1026833196 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1177361428 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS118204450 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1186488065 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1263748674 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1267309141 Health Risk Pathogenic Fucosidosis, Fucosidosis, Fucosidosis
RS1330811896 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1353778985 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS140858903 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1484147379 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1557506070 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1557510081 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1570679652 Health Risk Pathogenic Fucosidosis, Fucosidosis, Fucosidosis
RS1639662557 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1639662981 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1639663980 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1639666186 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS189315801 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS2148446020 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS2521617594 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS2521618823 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2521634441 Health Risk Pathogenic Fucosidosis, Fucosidosis
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