Variant (rsID / SNP)

rs28926178

rs28926178 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MC2R. Location: chromosome 18, position 13,885,438. Clinical significance in the table: Likely benign.

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Reference-table entries

MC2RLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:13885438
Cytoband: 18p11.21
HGVS: NM_000529.2(MC2R):c.80C>G (p.Pro27Arg)
Allele change: Missense_P27R

Associated conditions / phenotypes

Glucocorticoid Deficiency|Glucocorticoid deficiency 1

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.