MC1R - Gene browser

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.

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

07
Patient count

Freckles: 6 (85.7%)
Patient Count: 6 (85.7%)
% of total patients presenting each phenotype is shown in parentheses.
6 (85.7%)
Freckles in sun-exposed areas: 6 (85.7%)
Patient Count: 6 (85.7%)
% of total patients presenting each phenotype is shown in parentheses.
6 (85.7%)
Light eye color: 6 (85.7%)
Patient Count: 6 (85.7%)
% of total patients presenting each phenotype is shown in parentheses.
6 (85.7%)
Numerous pigmented freckles: 6 (85.7%)
Patient Count: 6 (85.7%)
% of total patients presenting each phenotype is shown in parentheses.
6 (85.7%)
Red hair: 6 (85.7%)
Patient Count: 6 (85.7%)
% of total patients presenting each phenotype is shown in parentheses.
6 (85.7%)