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MYO5B

myosin VB

HCNC Approved Symbol
MYO5B (HGNC:7603)
Genomic Coordinates
18:49,822,789 - 50,195,147 (18q21.1)
Synonyms
KIAA1119
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the MYO5B gene.

Frequently observed phenotypes

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

Failure to thrive
 4 (57.1%)
Metabolic acidosis
 4 (57.1%)
Cholestasis
 3 (42.9%)
Hepatomegaly
 3 (42.9%)
Icterus
 2 (28.6%)
MYO5B - Gene browser | 3billion