KIT - Gene browser

KIT

KIT proto-oncogene, receptor tyrosine kinase

HCNC Approved Symbol: KIT (HGNC:6342)
Genomic Coordinates: 4:54,657,957 - 54,740,715 (4q12)
Synonyms: CD117, SCFR, C-Kit, PBT
Disease Associations: This gene is associated with the following 6 diseases in OMIM.

Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the KIT gene.

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

05
Patient count

White forelock: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Cafe au lait spots: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Freckling: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Hair hypopigmentation: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)
Hypomelanotic macule: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)