Variant (rsID / SNP)

rs2228479

rs2228479 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MC1R. Location: chromosome 16, position 89,985,940. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MC1RBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:89985940
Cytoband: 16q24.3
HGVS: NM_002386.4(MC1R):c.274G>A (p.Val92Met)
Allele change: Missense_V92M

Associated conditions / phenotypes

Skin/hair/eye pigmentation 2, red hair/fair skin|Skin/hair/eye pigmentation 2, blond hair/fair skin|Melanoma, cutaneous malignant, susceptibility to, 5

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.