Variant (rsID / SNP)

rs74315352

rs74315352 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PARK7. Location: chromosome 1, position 8,044,990. Clinical significance in the table: Likely benign.

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Reference-table entries

PARK7Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:8044990
Cytoband: 1p36.23
HGVS: NM_007262.5(PARK7):c.446A>C (p.Asp149Ala)
Allele change: Missense_D149A

Associated conditions / phenotypes

Autosomal recessive early-onset Parkinson disease 7

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.