AARS2 - Gene browser

AARS2

alanyl-tRNA synthetase 2, mitochondrial

HCNC Approved Symbol: AARS2 (HGNC:21022)
Genomic Coordinates: 6:44,298,731 - 44,313,347 (6p21.1)
Synonyms: KIAA1270, bA444E17.1, AARSL
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the AARS2 gene.

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

06
Patient count

Cataract: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Cardiomegaly: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Nonimmune hydrops fetalis: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Severe hydrops fetalis: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Dyspnea: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)