Variant (rsID / SNP)

rs202128685

rs202128685 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PINK1. Location: chromosome 1, position 20,971,141. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PINK1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:20971141
Cytoband: 1p36.12
HGVS: NM_032409.3(PINK1):c.935G>A (p.Arg312Gln)
Allele change: Missense_R312Q

Associated conditions / phenotypes

Autosomal recessive early-onset Parkinson disease 6

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.