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MC1R

melanocortin 1 receptor

HCNC Approved Symbol
MC1R (HGNC:6929)
Genomic Coordinates
16:89,918,862 - 89,920,972 (16q24.3)
Synonyms
MSH-R
Disease Associations
This gene is associated with the following 6 diseases in OMIM.

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the MC1R gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Freckles
 6 (85.7%)
Freckles in sun-exposed areas
 6 (85.7%)
Light eye color
 6 (85.7%)
Numerous pigmented freckles
 6 (85.7%)
Red hair
 6 (85.7%)
MC1R - Gene browser | 3billion