Variant (rsID / SNP)

rs28940285

rs28940285 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PINK1. Location: chromosome 1, position 20,972,133. Clinical significance in the table: Pathogenic.

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Reference-table entries

PINK1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:20972133
Cytoband: 1p36.12
HGVS: NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro)
Allele change: Missense_L347P

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.