rs1659528560

This variant is located in the SLC30A10 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

not provided; Inborn genetic diseases

About SLC30A10

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]

View all SLC30A10 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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