TUBA1A - Gene browser

TUBA1A

tubulin alpha 1a

HCNC Approved Symbol: TUBA1A (HGNC:20766)
Genomic Coordinates: 12:49,184,795 - 49,189,080 (12q13.12)
Synonyms: TUBA3, B-ALPHA-1, FLJ25113
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

9Patients

In total, 9 patients were diagnosed with a variant in the TUBA1A gene.

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

09
Patient count

Global developmental delay: 4 (44.4%)
Patient Count: 4 (44.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (44.4%)
Epilepsy: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Generalized hypotonia: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Microcephaly: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)
Strabismus: 2 (22.2%)
Patient Count: 2 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (22.2%)