Variant (rsID / SNP)

rs2228478

rs2228478 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MC1R. Location: chromosome 16, position 89,986,608. 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: 16:89986608
Cytoband: 16q24.3
HGVS: NM_002386.4(MC1R):c.942A>G (p.Thr314=)
Allele change: Synonymous_T314T

Associated conditions / phenotypes

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.