FANCA - Gene browser

FANCA

FA complementation group A

HCNC Approved Symbol: FANCA (HGNC:3582)
Genomic Coordinates: 16:89,737,549 - 89,816,647 (16q24.3)
Synonyms: FAA, FA-H, FAH, FACA, FANCH
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

15Patients

In total, 15 patients were diagnosed with a variant in the FANCA gene.

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

015
Patient count

Ectopic kidney: 6 (40.0%)
Patient Count: 6 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (40.0%)
Pancytopenia: 5 (33.3%)
Patient Count: 5 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
5 (33.3%)
Short stature: 5 (33.3%)
Patient Count: 5 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
5 (33.3%)
Anemia: 4 (26.7%)
Patient Count: 4 (26.7%)
% of total patients presenting each phenotype is shown in parentheses.
4 (26.7%)
Bone marrow hypocellularity: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)