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Variant (rsID / SNP)

rs140201358

PNPLA2

rs140201358 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPLA2. Location: chromosome 11, position 823,586. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PNPLA2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:823586
Cytoband
11p15.5
HGVS
NM_020376.4(PNPLA2):c.756C>G (p.Asn252Lys)
Allele change
Missense_N252K

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.