Variant (rsID / SNP)

rs200000734

rs200000734 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MC1R. Location: chromosome 16, position 89,986,303. 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: 16:89986303
Cytoband: 16q24.3
HGVS: NM_002386.4(MC1R):c.637C>T (p.Arg213Trp)
Allele change: Missense_R213W

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.