Variant (rsID / SNP)
rs34424986
rs34424986 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKN. Location: chromosome 6, position 162,206,852. Clinical significance in the table: Pathogenic.
Reference-table entries
PRKNPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 6:162206852
- Cytoband
- 6q26
- HGVS
- NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)
- Allele change
- Missense_R275W
Associated conditions / phenotypes
Autosomal recessive juvenile Parkinson disease 2|Young-onset Parkinson disease|Lung carcinoma|Neoplasm of ovary|Leprosy, susceptibility to, 2|Autosomal recessive juvenile Parkinson disease 2|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.