NT5C2 Chromosome 10
5'-nucleotidase, cytosolic II
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What This Gene Does
This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
5'-nucleotidases
Locus Type
gene with protein product
Location
10q24.32-q24.33
Ensembl
ENSG00000076685
Associated Conditions (8)
Hereditary spastic paraplegia
Hereditary spastic paraplegia 45
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Neurodevelopmental disorder
Key Variants
RS201261415
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia 45, Inborn genetic diseases
Health Risk
RS537259520
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 45, Hereditary spastic paraplegia, Hereditary spastic paraplegia 45
Health Risk
RS753603040
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 45, Hereditary spastic paraplegia, Hereditary spastic paraplegia 45
Health Risk
RS1273292745
Likely pathogenic
Hereditary spastic paraplegia 45, Thyroid cancer, nonmedullary
Health Risk
RS1430860231
Likely pathogenic
Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
Health Risk
RS1457224574
Likely pathogenic
Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
Health Risk
RS759724715
Likely pathogenic
Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
Health Risk
RS762980266
Likely pathogenic
Health Risk
RS770036597
Likely pathogenic
Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
Health Risk
RS1385107002
Pathogenic
Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
Health Risk
RS1419090736
Pathogenic
Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
Health Risk
RS1458171628
Pathogenic
Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201261415 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia 45, Inborn genetic diseases |
| RS537259520 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia, Hereditary spastic paraplegia 45 |
| RS753603040 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia, Hereditary spastic paraplegia 45 |
| RS1273292745 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 45, Thyroid cancer, nonmedullary |
| RS1430860231 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS1457224574 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS759724715 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS762980266 | Health Risk | Likely pathogenic | — |
| RS770036597 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS1385107002 | Health Risk | Pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS1419090736 | Health Risk | Pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS1458171628 | Health Risk | Pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS2134504868 | Health Risk | Pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS2494459588 | Health Risk | Pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS2494516804 | Health Risk | Pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS2494889270 | Health Risk | Pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS375985056 | Health Risk | Pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS587777173 | Health Risk | Pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS587777174 | Health Risk | Pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS764453448 | Health Risk | Pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS768651632 | Health Risk | Pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS769417998 | Health Risk | Pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS886037656 | Health Risk | Pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS886037657 | Health Risk | Pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS886037658 | Health Risk | Pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS753295868 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 45, Neurodevelopmental disorder, Hereditary spastic paraplegia 45 |
| RS763305896 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS769873284 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |