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Variant (rsID / SNP)

rs34778348

LRRK2

rs34778348 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRRK2. Location: chromosome 12, position 40,757,328. Clinical significance in the table: Conflicting interpretations of pathogenicity; risk factor.

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Reference-table entries

LRRK2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity; risk factor
Variant type
single nucleotide variant
Chromosome / position
12:40757328
Cytoband
12q12
HGVS
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg)
Allele change
Missense_G2385R

Associated conditions / phenotypes

Autosomal dominant Parkinson disease 8|Parkinson disease

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.