ACTN1 - Gene browser | 3billion

ACTN1

ACTN1

actinin alpha 1

HCNC Approved Symbol: ACTN1 (HGNC:163)
Genomic Coordinates: 14:68,874,128 - 68,979,302 (14q24.1)
Synonyms
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the ACTN1 gene.

Frequently observed phenotypes(Top 5 only)

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

02
Patient count

Ocular albinism: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)
Thrombocytopenia: 2 (100.0%)
Patient Count: 2 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (100.0%)

Last updated: 2024-06-30

ACTN1 - Gene browser | 3billion