Variant (rsID / SNP)
rs78501232
rs78501232 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LRRK2. Location: chromosome 12, position 40,645,075. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
LRRK2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:40645075
- Cytoband
- 12q12
- HGVS
- NM_198578.4(LRRK2):c.1000G>A (p.Glu334Lys)
- Allele change
- Missense_E334K
Associated conditions / phenotypes
Autosomal dominant Parkinson disease 8
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.