Variant (rsID / SNP)

rs104894658

rs104894658 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MC2R. Location: chromosome 18, position 13,885,297. Clinical significance in the table: Pathogenic.

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Reference-table entries

MC2RPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:13885297
Cytoband: 18p11.21
HGVS: NM_000529.2(MC2R):c.221G>T (p.Ser74Ile)
Allele change: Missense_S74I

Associated conditions / phenotypes

Glucocorticoid deficiency 1|Glucocorticoid Deficiency

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.