ACTG1 - Gene browser

ACTG1

actin gamma 1

HCNC Approved Symbol: ACTG1 (HGNC:144)
Genomic Coordinates: 17:81,509,971 - 81,512,799 (17q25.3)
Synonyms: ACTG, DFNA20, DFNA26
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

16Patients

In total, 16 patients were diagnosed with a variant in the ACTG1 gene.

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

016
Patient count

Hearing loss: 9 (56.3%)
Patient Count: 9 (56.3%)
% of total patients presenting each phenotype is shown in parentheses.
9 (56.3%)
Hearing impairment: 4 (25.0%)
Patient Count: 4 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (25.0%)
Abnormal facial shape: 1 (6.3%)
Patient Count: 1 (6.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (6.3%)
Broad nasal root: 1 (6.3%)
Patient Count: 1 (6.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (6.3%)
Dilatation of the renal pelvis: 1 (6.3%)
Patient Count: 1 (6.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (6.3%)