CARS1 Chromosome 11
Cysteinyl-tRNA synthetase 1
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What This Gene Does
This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class I
Locus Type
gene with protein product
Location
11p15.4
Ensembl
ENSG00000110619
Associated Conditions (3)
Microcephaly
developmental delay
and brittle hair syndrome
Key Variants
RS781761299
Conflicting classifications of pathogenicity
Microcephaly, developmental delay, and brittle hair syndrome
Health Risk
RS200923551
Likely pathogenic
Microcephaly, developmental delay, and brittle hair syndrome
Health Risk
RS777861752
Likely pathogenic
Microcephaly, developmental delay, and brittle hair syndrome
Health Risk
RS1851281486
Pathogenic
Microcephaly, developmental delay, and brittle hair syndrome
Health Risk
RS2494629397
Pathogenic
Microcephaly, developmental delay, and brittle hair syndrome
Health Risk
RS753057519
Pathogenic
Microcephaly, developmental delay, and brittle hair syndrome
Health Risk
RS757978333
Pathogenic
Microcephaly, developmental delay, and brittle hair syndrome
Health Risk
RS764965330
Pathogenic
Microcephaly, developmental delay, and brittle hair syndrome
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS781761299 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly, developmental delay, and brittle hair syndrome |
| RS200923551 | Health Risk | Likely pathogenic | Microcephaly, developmental delay, and brittle hair syndrome |
| RS777861752 | Health Risk | Likely pathogenic | Microcephaly, developmental delay, and brittle hair syndrome |
| RS1851281486 | Health Risk | Pathogenic | Microcephaly, developmental delay, and brittle hair syndrome |
| RS2494629397 | Health Risk | Pathogenic | Microcephaly, developmental delay, and brittle hair syndrome |
| RS753057519 | Health Risk | Pathogenic | Microcephaly, developmental delay, and brittle hair syndrome |
| RS757978333 | Health Risk | Pathogenic | Microcephaly, developmental delay, and brittle hair syndrome |
| RS764965330 | Health Risk | Pathogenic | Microcephaly, developmental delay, and brittle hair syndrome |