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SNF8

SNF8 subunit of ESCRT-II

HCNC Approved Symbol
SNF8 (HGNC:17028)
Genomic Coordinates
17:48,929,316 - 48,944,842 (17q21.32)
Synonyms
EAP30, VPS22, Dot3
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Developmental and epileptic encephalopathy 115
620783AR
Neurodevelopmental disorder plus optic atrophy
620784AR

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the SNF8 gene.

Frequently observed phenotypes

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

No Results