Variant (rsID / SNP)

rs121918259

rs121918259 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPLA2. Location: chromosome 11, position 822,494. Clinical significance in the table: Pathogenic.

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Reference-table entries

PNPLA2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:822494
Cytoband: 11p15.5
HGVS: NM_020376.4(PNPLA2):c.584C>T (p.Pro195Leu)
Allele change: Missense_P195L

Associated conditions / phenotypes

Neutral lipid storage myopathy

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.