Variant (rsID / SNP)

rs182948893

rs182948893 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPLA2. Location: chromosome 11, position 824,674. Clinical significance in the table: Likely benign.

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Reference-table entries

PNPLA2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:824674
Cytoband: 11p15.5
HGVS: NM_020376.4(PNPLA2):c.1327C>G (p.Leu443Val)
Allele change: Missense_L443V

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.