Variant (rsID / SNP)

rs137853058

rs137853058 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKN. Location: chromosome 6, position 162,394,433. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PRKNPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:162394433
Cytoband: 6q26
HGVS: NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr)
Allele change: Missense_C212Y

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.