HARS1 - Gene browser

HARS1

histidyl-tRNA synthetase 1

HCNC Approved Symbol: HARS1 (HGNC:4816)
Genomic Coordinates: 5:140,673,905 - 140,691,370 (5q31.3)
Synonyms: HisRS, USH3B, HARS
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the HARS1 gene.

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

04
Patient count

Hearing loss: 3 (75.0%)
Patient Count: 3 (75.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (75.0%)
Hearing impairment: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Retinal dystrophy: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Retinal disease: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Retinitis pigmentosa: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)