Variant (rsID / SNP)

rs398122395

rs398122395 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC20A2. Location: chromosome 8, position 42,320,530. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC20A2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 8:42320530
Cytoband: 8p11.21
HGVS: NM_001257180.2(SLC20A2):c.509del (p.Ile169_Leu170insTer)

Associated conditions / phenotypes

Idiopathic basal ganglia calcification 1

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.