CHRNA1 - Gene browser

CHRNA1

cholinergic receptor nicotinic alpha 1 subunit

HCNC Approved Symbol: CHRNA1 (HGNC:1955)
Genomic Coordinates: 2:174,747,592 - 174,764,472 (2q31.1)
Synonyms: CHRNA
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the CHRNA1 gene.

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

07
Patient count

Cystic hygroma: 3 (42.9%)
Patient Count: 3 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
3 (42.9%)
Myasthenia: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Barrel-shaped chest: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Enlarged cisterna magna: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Hypoplastic cerebellum: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)