Variant (rsID / SNP)

rs183902574

rs183902574 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRRK2. Location: chromosome 12, position 40,699,748. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LRRK2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:40699748
Cytoband: 12q12
HGVS: NM_198578.4(LRRK2):c.3939T>A (p.Cys1313Ter)
Allele change: Nonsense_C1313X

Associated conditions / phenotypes

Autosomal dominant Parkinson disease 8

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.