Variant (rsID / SNP)

rs71653619

rs71653619 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PARK7. Location: chromosome 1, position 8,030,994. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PARK7Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:8030994
Cytoband: 1p36.23
HGVS: NM_007262.5(PARK7):c.293G>A (p.Arg98Gln)
Allele change: Missense_R98Q

Associated conditions / phenotypes

Autosomal recessive early-onset Parkinson disease 7|Renal cysts and diabetes syndrome

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.