ACTB - Gene browser

ACTB

actin beta

HCNC Approved Symbol: ACTB (HGNC:132)
Genomic Coordinates: 7:5,527,148 - 5,530,601 (7p22.1)
Synonyms
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

23Patients

In total, 23 patients were diagnosed with a variant in the ACTB gene.

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

023
Patient count

Hypertelorism: 6 (26.1%)
Patient Count: 6 (26.1%)
% of total patients presenting each phenotype is shown in parentheses.
6 (26.1%)
Short neck: 6 (26.1%)
Patient Count: 6 (26.1%)
% of total patients presenting each phenotype is shown in parentheses.
6 (26.1%)
Global developmental delay: 5 (21.7%)
Patient Count: 5 (21.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (21.7%)
Failure to thrive: 4 (17.4%)
Patient Count: 4 (17.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (17.4%)
Microcephaly: 4 (17.4%)
Patient Count: 4 (17.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (17.4%)