Variant (rsID / SNP)

rs281860288

rs281860288 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC30A10. Location: chromosome 1, position 220,101,198. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC30A10Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 1:220101198
Cytoband: 1q41
HGVS: NM_018713.3(SLC30A10):c.585del (p.Thr196fs)

Associated conditions / phenotypes

Hypermanganesemia with dystonia, polycythemia, and cirrhosis

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.