MYO5B - Gene browser

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.

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

07
Patient count

Failure to thrive: 4 (57.1%)
Patient Count: 4 (57.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (57.1%)
Metabolic acidosis: 4 (57.1%)
Patient Count: 4 (57.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (57.1%)
Cholestasis: 3 (42.9%)
Patient Count: 3 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
3 (42.9%)
Hepatomegaly: 3 (42.9%)
Patient Count: 3 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
3 (42.9%)
Icterus: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)