Gene entry

HARS1

histidyl-tRNA synthetase 1

Chromosome: 5
Cytoband: 5q31.3
Variants (rsID): 3

HARS1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q31.3). Its official name is “histidyl-tRNA synthetase 1”. The reference table lists 3 variants (rsID) for this gene.

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Clinically classified variants

3 reference-table entries with clinical significance.

rs147288996Benignsingle nucleotide variantUsher syndrome type 3B
rs191391414Conflicting interpretationssingle nucleotide variantAutosomal dominant Charcot-Marie-Tooth disease type 2W|Usher syndrome type 3B
rs772505507Likely benignsingle nucleotide variantUsher syndrome type 3B

Public references

NCBI Gene
Ensembl
ClinVar

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.