NF1 - Gene browser

NF1

neurofibromin 1

HCNC Approved Symbol: NF1 (HGNC:7765)
Genomic Coordinates: 17:31,094,927 - 31,377,677 (17q11.2)
Synonyms
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

219Patients

In total, 219 patients were diagnosed with a variant in the NF1 gene.

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

0219
Patient count

Cafe-au-lait spot: 54 (24.7%)
Patient Count: 54 (24.7%)
% of total patients presenting each phenotype is shown in parentheses.
54 (24.7%)
Cafe au lait spots: 46 (21.0%)
Patient Count: 46 (21.0%)
% of total patients presenting each phenotype is shown in parentheses.
46 (21.0%)
Axillary freckling: 44 (20.1%)
Patient Count: 44 (20.1%)
% of total patients presenting each phenotype is shown in parentheses.
44 (20.1%)
Neurofibromas: 44 (20.1%)
Patient Count: 44 (20.1%)
% of total patients presenting each phenotype is shown in parentheses.
44 (20.1%)
Neurofibromatosis: 33 (15.1%)
Patient Count: 33 (15.1%)
% of total patients presenting each phenotype is shown in parentheses.
33 (15.1%)