NSF - Gene browser

NSF

N-ethylmaleimide sensitive factor, vesicle fusing ATPase

HCNC Approved Symbol: NSF (HGNC:8016)
Genomic Coordinates: 17:46,590,669 - 46,757,464 (17q21.31)
Synonyms: SKD2, SEC18
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 NSF gene.

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

01
Patient count

Autistic feature: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Generalized tonic-clonic seizures: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Gross motor delay: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Intellectual disability: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Learning difficulties: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)