Variant (rsID / SNP)

rs137852962

rs137852962 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PANK2. Location: chromosome 20, position 3,888,800. Clinical significance in the table: Pathogenic.

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Reference-table entries

PANK2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:3888800
Cytoband: 20p13
HGVS: NM_001386393.1(PANK2):c.526C>T (p.Arg176Cys)
Allele change: Silent

Associated conditions / phenotypes

Pigmentary pallidal degeneration

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.