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Variant (rsID / SNP)

rs121909244

PPARG

rs121909244 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPARG. Location: chromosome 3, position 12,475,610. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PPARGConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:12475610
Cytoband
3p25.2
HGVS
NM_138711.6(PPARG):c.1394C>T (p.Pro465Leu)
Allele change
Missense_P467L

Associated conditions / phenotypes

PPARG-related familial partial lipodystrophy|Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension|Obesity|Lipodystrophy

Public references

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