FGFR1 - Gene browser

FGFR1

fibroblast growth factor receptor 1

HCNC Approved Symbol: FGFR1 (HGNC:3688)
Genomic Coordinates: 8:38,411,143 - 38,468,635 (8p11.23)
Synonyms: H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331, FLT2, KAL2
Disease Associations: This gene is associated with the following 7 diseases in OMIM.

Diagnosed Cases

13Patients

In total, 13 patients were diagnosed with a variant in the FGFR1 gene.

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

013
Patient count

Hypogonadotrophic hypogonadism: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Cryptorchidism: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Amenorrhea, primary: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Decreased circulating follicle stimulating hormone level: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Decreased circulating luteinizing hormone level: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)