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Variant (rsID / SNP)

rs142174851

PNPLA2

rs142174851 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPLA2. Location: chromosome 11, position 821,809. 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
11:821809
Cytoband
11p15.5
HGVS
NM_020376.4(PNPLA2):c.369C>T (p.Asp123=)
Allele change
Synonymous_D123D

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.