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Variant (rsID / SNP)

rs28932472

POMC

rs28932472 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POMC. Location: chromosome 2, position 25,384,048. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

POMCConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:25384048
Cytoband
2p23.3
HGVS
NM_000939.4(POMC):c.706C>G (p.Arg236Gly)
Allele change
Missense_R236G

Associated conditions / phenotypes

Obesity, early-onset, susceptibility to|Obesity due to pro-opiomelanocortin deficiency

Public references

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