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Variant (rsID / SNP)

rs137852959

PANK2

rs137852959 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PANK2. Location: chromosome 20, position 3,899,342. 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
20:3899342
Cytoband
20p13
HGVS
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)
Allele change
Missense_G230R

Associated conditions / phenotypes

Pigmentary pallidal degeneration|Neurodegeneration with brain iron accumulation 1, atypical|Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration|Inborn genetic diseases|Retinitis pigmentosa

Public references

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