Variant (rsID / SNP)

rs369100678

rs369100678 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VPS13C. Location: chromosome 15, position 62,250,807. Clinical significance in the table: Pathogenic.

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Reference-table entries

VPS13CPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:62250807
Cytoband: 15q22.2
HGVS: NM_020821.3(VPS13C):c.4165G>C (p.Gly1389Arg)
Allele change: Missense_G1389R

Associated conditions / phenotypes

Autosomal recessive early-onset Parkinson disease 23|Parkinson disease

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.