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Variant (rsID / SNP)

rs201418203

PNPLA2

rs201418203 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPLA2. Location: chromosome 11, position 822,389. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PNPLA2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:822389
Cytoband
11p15.5
HGVS
NM_020376.4(PNPLA2):c.487-8C>T
Allele change
Silent

Associated conditions / phenotypes

Neutral lipid storage myopathy

Public references

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