SLC30A10 Chromosome 1
Solute carrier family 30 member 10
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What This Gene Does
This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
Solute carrier family 30
Locus Type
gene with protein product
Location
1q41
Ensembl
ENSG00000196660
Associated Conditions (4)
Hypermanganesemia with dystonia
polycythemia
and cirrhosis
SLC30A10-related disorder
Key Variants
RS138025172
Conflicting classifications of pathogenicity
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Health Risk
RS144010718
Conflicting classifications of pathogenicity
Health Risk
RS148203711
Conflicting classifications of pathogenicity
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Health Risk
RS188273166
Conflicting classifications of pathogenicity
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Health Risk
RS202111121
Conflicting classifications of pathogenicity
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Health Risk
RS61832076
Conflicting classifications of pathogenicity
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Health Risk
RS760889956
Conflicting classifications of pathogenicity
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Health Risk
RS770740586
Conflicting classifications of pathogenicity
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Health Risk
RS781687046
Conflicting classifications of pathogenicity
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Health Risk
RS79106013
Conflicting classifications of pathogenicity
Health Risk
RS2527884093
Likely pathogenic
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Health Risk
RS281860290
Likely pathogenic
Hypermanganesemia with dystonia, polycythemia, and cirrhosis
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138025172 | Health Risk | Conflicting classifications of pathogenicity | Hypermanganesemia with dystonia, polycythemia, and cirrhosis |
| RS144010718 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148203711 | Health Risk | Conflicting classifications of pathogenicity | Hypermanganesemia with dystonia, polycythemia, and cirrhosis |
| RS188273166 | Health Risk | Conflicting classifications of pathogenicity | Hypermanganesemia with dystonia, polycythemia, and cirrhosis |
| RS202111121 | Health Risk | Conflicting classifications of pathogenicity | Hypermanganesemia with dystonia, polycythemia, and cirrhosis |
| RS61832076 | Health Risk | Conflicting classifications of pathogenicity | Hypermanganesemia with dystonia, polycythemia, and cirrhosis |
| RS760889956 | Health Risk | Conflicting classifications of pathogenicity | Hypermanganesemia with dystonia, polycythemia, and cirrhosis |
| RS770740586 | Health Risk | Conflicting classifications of pathogenicity | Hypermanganesemia with dystonia, polycythemia, and cirrhosis |
| RS781687046 | Health Risk | Conflicting classifications of pathogenicity | Hypermanganesemia with dystonia, polycythemia, and cirrhosis |
| RS79106013 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2527884093 | Health Risk | Likely pathogenic | Hypermanganesemia with dystonia, polycythemia, and cirrhosis |
| RS281860290 | Health Risk | Likely pathogenic | Hypermanganesemia with dystonia, polycythemia, and cirrhosis |
| RS281860284 | Health Risk | Pathogenic | Hypermanganesemia with dystonia, polycythemia, and cirrhosis |
| RS281860285 | Health Risk | Pathogenic | Hypermanganesemia with dystonia, polycythemia, and cirrhosis |
| RS281860287 | Health Risk | Pathogenic | Hypermanganesemia with dystonia, polycythemia, and cirrhosis |
| RS281860288 | Health Risk | Pathogenic | Hypermanganesemia with dystonia, polycythemia, and cirrhosis |
| RS281860292 | Health Risk | Pathogenic | Hypermanganesemia with dystonia, polycythemia, and cirrhosis |