AARS1 - Gene browser

AARS1

alanyl-tRNA synthetase 1

HCNC Approved Symbol: AARS1 (HGNC:20)
Genomic Coordinates: 16:70,252,298 - 70,289,506 (16q22.1)
Synonyms: CMT2N, AlaRS, AARS
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

3Patients

In total, 3 patients were diagnosed with a variant in the AARS1 gene.

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

03
Patient count

Brain atrophy: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Epilepsy: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Global developmental delay: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Intellectual disability, severe: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Large ears: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)