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Variant (rsID / SNP)

rs201326893

MC1R

rs201326893 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MC1R. Location: chromosome 16, position 89,986,122. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MC1RConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:89986122
Cytoband
16q24.3
HGVS
NM_002386.4(MC1R):c.456C>A (p.Tyr152Ter)
Allele change
Nonsense_Y152X

Associated conditions / phenotypes

Melanoma, cutaneous malignant, susceptibility to, 5

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.