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Variant (rsID / SNP)

rs121908687

PLA2G6

rs121908687 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLA2G6. Location: chromosome 22, position 38,508,548. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PLA2G6Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
22:38508548
Cytoband
22q13.1
HGVS
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp)
Allele change
Missense_R521W

Associated conditions / phenotypes

Autosomal recessive Parkinson disease 14|Autosomal recessive Parkinson disease 14|Infantile neuroaxonal dystrophy|Neurodegeneration with brain iron accumulation 2B

Public references

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