Variant (rsID / SNP)

rs185398527

rs185398527 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC30A2. Location: chromosome 1, position 26,371,500. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC30A2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:26371500
Cytoband: 1p36.11
HGVS: NM_001004434.3(SLC30A2):c.259G>A (p.Gly87Arg)
Allele change: Missense_G87R

Associated conditions / phenotypes

Zinc deficiency, transient neonatal

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.