VPS4A - Gene browser

VPS4A

vacuolar protein sorting 4 homolog A

HCNC Approved Symbol: VPS4A (HGNC:13488)
Genomic Coordinates: 16:69,311,350 - 69,326,939 (16q23.1)
Synonyms: VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

1Patient

In total, 1 patient was diagnosed with a variant in the VPS4A gene.

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

01
Patient count

Astigmatism: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Carnitine levels abnormal: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Fatigue: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hemangioma: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hepatic dysfunction: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)