FBN1 - Gene browser

FBN1

fibrillin 1

HCNC Approved Symbol: FBN1 (HGNC:3603)
Genomic Coordinates: 15:48,408,313 - 48,645,709 (15q21.1)
Synonyms: MASS, OCTD, SGS, FBN, MFS1, WMS
Disease Associations: This gene is associated with the following 8 diseases in OMIM.

130Patients

In total, 130 patients were diagnosed with a variant in the FBN1 gene.

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

0130
Patient count

Marfanoid habitus: 37 (28.5%)
Patient Count: 37 (28.5%)
% of total patients presenting each phenotype is shown in parentheses.
37 (28.5%)
Scoliosis: 27 (20.8%)
Patient Count: 27 (20.8%)
% of total patients presenting each phenotype is shown in parentheses.
27 (20.8%)
Tall stature: 26 (20.0%)
Patient Count: 26 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
26 (20.0%)
Arachnodactyly: 20 (15.4%)
Patient Count: 20 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
20 (15.4%)
Myopia: 15 (11.5%)
Patient Count: 15 (11.5%)
% of total patients presenting each phenotype is shown in parentheses.
15 (11.5%)