ACP5 Chromosome 19
Acid phosphatase 5, tartrate resistant
Upload your DNA to see your personal genotypes for variants in ACP5.
What This Gene Does
This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008]
Gene Info
Gene Group
Acid phosphatases
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000102575
Associated Conditions (4)
Spondyloenchondrodysplasia with immune dysregulation
Inborn genetic diseases
ACP5-related disorder
See cases
Key Variants
RS139822120
Conflicting classifications of pathogenicity
Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
Health Risk
RS143362935
Conflicting classifications of pathogenicity
Spondyloenchondrodysplasia with immune dysregulation, Inborn genetic diseases, Spondyloenchondrodysplasia with immune dysregulation
Health Risk
RS146196342
Conflicting classifications of pathogenicity
Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
Health Risk
RS147025508
Conflicting classifications of pathogenicity
Spondyloenchondrodysplasia with immune dysregulation, ACP5-related disorder, Spondyloenchondrodysplasia with immune dysregulation
Health Risk
RS182776939
Conflicting classifications of pathogenicity
Spondyloenchondrodysplasia with immune dysregulation, Inborn genetic diseases, Spondyloenchondrodysplasia with immune dysregulation
Health Risk
RS2512719998
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS369804864
Conflicting classifications of pathogenicity
Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
Health Risk
RS374180791
Conflicting classifications of pathogenicity
Spondyloenchondrodysplasia with immune dysregulation, Inborn genetic diseases, Spondyloenchondrodysplasia with immune dysregulation
Health Risk
RS1025967277
Pathogenic
Inborn genetic diseases, Spondyloenchondrodysplasia with immune dysregulation, Inborn genetic diseases
Health Risk
RS1171155255
Pathogenic
Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
Health Risk
RS1208849844
Pathogenic
Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
Health Risk
RS1251215582
Pathogenic
Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
Health Risk
All Variants (40)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139822120 | Health Risk | Conflicting classifications of pathogenicity | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS143362935 | Health Risk | Conflicting classifications of pathogenicity | Spondyloenchondrodysplasia with immune dysregulation, Inborn genetic diseases, Spondyloenchondrodysplasia with immune dysregulation |
| RS146196342 | Health Risk | Conflicting classifications of pathogenicity | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS147025508 | Health Risk | Conflicting classifications of pathogenicity | Spondyloenchondrodysplasia with immune dysregulation, ACP5-related disorder, Spondyloenchondrodysplasia with immune dysregulation |
| RS182776939 | Health Risk | Conflicting classifications of pathogenicity | Spondyloenchondrodysplasia with immune dysregulation, Inborn genetic diseases, Spondyloenchondrodysplasia with immune dysregulation |
| RS2512719998 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS369804864 | Health Risk | Conflicting classifications of pathogenicity | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS374180791 | Health Risk | Conflicting classifications of pathogenicity | Spondyloenchondrodysplasia with immune dysregulation, Inborn genetic diseases, Spondyloenchondrodysplasia with immune dysregulation |
| RS1025967277 | Health Risk | Pathogenic | Inborn genetic diseases, Spondyloenchondrodysplasia with immune dysregulation, Inborn genetic diseases |
| RS1171155255 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS1208849844 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS1251215582 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS1294990891 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, ACP5-related disorder, Spondyloenchondrodysplasia with immune dysregulation |
| RS1318417167 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS1599634435 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS1973089024 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS1973142593 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS1973203506 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS2145087630 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS2145087756 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS2145089035 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS2145091349 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS2145092472 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS2145092503 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS2145093044 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS2512725836 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS2512725950 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS2512728377 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS387906668 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS387906669 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS387906670 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS747619825 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS749753832 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS756448158 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS879255600 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS965741395 | Health Risk | Pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS761798208 | Health Risk | Pathogenic/Likely pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS781050795 | Health Risk | Pathogenic/Likely pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Inborn genetic diseases, ACP5-related disorder |
| RS781199182 | Health Risk | Pathogenic/Likely pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |
| RS878853218 | Health Risk | Pathogenic/Likely pathogenic | Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation |