Variant (rsID / SNP)

rs11547464

rs11547464 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MC1R. Location: chromosome 16, position 89,986,091. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MC1RBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:89986091
Cytoband: 16q24.3
HGVS: NM_002386.4(MC1R):c.425G>A (p.Arg142His)
Allele change: Missense_R142H

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.