Variant (rsID / SNP)
rs104894657
rs104894657 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MC2R. Location: chromosome 18, position 13,885,136. Clinical significance in the table: Pathogenic.
Reference-table entries
MC2RPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:13885136
- Cytoband
- 18p11.21
- HGVS
- NM_000529.2(MC2R):c.382C>T (p.Arg128Cys)
- Allele change
- Missense_R128C
Associated conditions / phenotypes
Glucocorticoid deficiency 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.