Variant (rsID / SNP)

rs28936407

rs28936407 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPARG. Location: chromosome 3, position 12,458,330. Clinical significance in the table: Pathogenic.

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Reference-table entries

PPARGPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:12458330
Cytoband: 3p25.2
HGVS: NM_138711.6(PPARG):c.857G>A (p.Arg286His)
Allele change: Missense_R288H

Associated conditions / phenotypes

Carcinoma of colon

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.