Gene entry
AARS1
alanyl-tRNA synthetase 1
- Chromosome
- 16
- Cytoband
- 16q22.1
- Variants (rsID)
- 17
AARS1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16q22.1). Its official name is “alanyl-tRNA synthetase 1”. The reference table lists 17 variants (rsID) for this gene.
Clinically classified variants
14 reference-table entries with clinical significance.
- rs11537667Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease axonal type 2N
- rs141840552Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease axonal type 2N
- rs148355156Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease axonal type 2N
- rs149377346Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease axonal type 2N
- rs187509039Benignsingle nucleotide variantCharcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease axonal type 2N
- rs138081804Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease axonal type 2N
- rs143370729Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 29|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease
- rs200586605Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease axonal type 2N
- rs576221121Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease axonal type 2N
- rs771059047Conflicting interpretationssingle nucleotide variantCharcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease axonal type 2N
- rs199644417Likely benignsingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2N
- rs770980206Likely benignsingle nucleotide variantCharcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease axonal type 2N
- rs786205157Likely pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 29
- rs267606621Pathogenicsingle nucleotide variantCharcot-Marie-Tooth disease axonal type 2N|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.