Variant (rsID / SNP)

rs74315354

rs74315354 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PARK7. Location: chromosome 1, position 8,045,031. Clinical significance in the table: no interpretation for the single variant.

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Reference-table entries

PARK7Other

Clinical significance (as recorded): no interpretation for the single variant
Variant type: single nucleotide variant
Chromosome / position: 1:8045031
Cytoband: 1p36.23
HGVS: NM_007262.5(PARK7):c.487G>A (p.Glu163Lys)
Allele change: Missense_E163K

Associated conditions / phenotypes

Parkinson Disease 7, Autosomal Recessive Early-Onset

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.