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Gene BrowserrightACTA1

ACTA1

actin alpha 1, skeletal muscle

HCNC Approved Symbol
ACTA1 (HGNC:129)
Genomic Coordinates
1:229,431,245 - 229,434,094 (1q42.13)
Synonyms
NEM3, ACTA
Disease Associations
This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

13Patients

Total 13 patients were diagnosed with a variant in the ACTA1 gene.

Frequently observed phenotypes (Top 5 only)

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

013
Patient count
Myopathy
 5(38.5%)
Patient Count: 5 (38.5%)

% of total patients presenting each phenotype is shown in parentheses.

 5(38.5%)
Generalized hypotonia
 4(30.8%)
Patient Count: 4 (30.8%)

% of total patients presenting each phenotype is shown in parentheses.

 4(30.8%)
Skeletal muscle atrophy
 3(23.1%)
Patient Count: 3 (23.1%)

% of total patients presenting each phenotype is shown in parentheses.

 3(23.1%)
Muscle weakness
 2(15.4%)
Patient Count: 2 (15.4%)

% of total patients presenting each phenotype is shown in parentheses.

 2(15.4%)
Scoliosis
 2(15.4%)
Patient Count: 2 (15.4%)

% of total patients presenting each phenotype is shown in parentheses.

 2(15.4%)
No Results
• Last updated: 2024-06-30
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