Variant (rsID / SNP)

rs72546338

rs72546338 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRRK2. Location: chromosome 12, position 40,702,283. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

LRRK2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:40702283
Cytoband: 12q12
HGVS: NM_198578.4(LRRK2):c.3974G>A (p.Arg1325Gln)
Allele change: Missense_R1325Q

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.