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UBA1

ubiquitin like modifier activating enzyme 1

HCNC Approved Symbol
UBA1 (HGNC:12469)
Genomic Coordinates
23:47,190,847 - 47,215,128 (Xp11.3)
Synonyms
UBE1X, POC20, CFAP124, A1S9T, GXP1, UBE1
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Spinal muscular atrophy, X-linked 2, infantile
301830X-linked recessive
VEXAS syndrome, somatic
301054-

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the UBA1 gene.

Frequently observed phenotypes

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

No Results