KARS1 - Gene browser

KARS1

lysyl-tRNA synthetase 1

HCNC Approved Symbol: KARS1 (HGNC:6215)
Genomic Coordinates: 16:75,627,724 - 75,647,665 (16q23.1)
Synonyms: KARS2, DFNB89, KARS
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the KARS1 gene.

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

04
Patient count

Hearing loss: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Intellectual disability: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Brachycephaly: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Brain atrophy: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Brisk reflexes: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)