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B4GAT1

beta-1,4-glucuronyltransferase 1

HCNC Approved Symbol
B4GAT1 (HGNC:15685)
Genomic Coordinates
11:66,345,374 - 66,347,629 (11q13.2)
Synonyms
IGnT, iGAT, BETA3GNTI, B3GN-T1, B3GNT6, B3GNT1
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13
615287AR

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the B4GAT1 gene.

Frequently observed phenotypes

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

No Results