Variant (rsID / SNP)

rs137853054

rs137853054 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKN. Location: chromosome 6, position 162,394,349. Clinical significance in the table: Pathogenic.

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Reference-table entries

PRKNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:162394349
Cytoband: 6q26
HGVS: NM_004562.3(PRKN):c.719C>G (p.Thr240Arg)
Allele change: Missense_T240R

Associated conditions / phenotypes

Autosomal recessive juvenile Parkinson disease 2

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.