FARSA Chromosome 19
Phenylalanyl-tRNA synthetase subunit alpha
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What This Gene Does
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a product which is similar to the catalytic subunit of prokaryotic and Saccharomyces cerevisiae phenylalanyl-tRNA synthetases (PheRS). This gene product has been shown to be expressed in a tumor-selective and cell cycle stage- and differentiation-dependent manner, the first member of the tRNA synthetase gene family shown to exhibit this type of regulated expression [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class II
Locus Type
gene with protein product
Location
19p13.13
Ensembl
ENSG00000179115
Associated Conditions (5)
FARSA-related disorder
Melanoma
Familial cancer of breast
Lung cancer
Rajab interstitial lung disease with brain calcifications 2
Key Variants
RS61737507
Conflicting classifications of pathogenicity
FARSA-related disorder, Melanoma, Familial cancer of breast
Health Risk
RS139805483
Likely pathogenic
Rajab interstitial lung disease with brain calcifications 2, Rajab interstitial lung disease with brain calcifications 2
Health Risk
RS1971301248
Pathogenic
Rajab interstitial lung disease with brain calcifications 2, Rajab interstitial lung disease with brain calcifications 2
Health Risk
RS375272364
Pathogenic
Rajab interstitial lung disease with brain calcifications 2, Rajab interstitial lung disease with brain calcifications 2
Health Risk
RS941586004
Pathogenic
Rajab interstitial lung disease with brain calcifications 2, Rajab interstitial lung disease with brain calcifications 2
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS61737507 | Health Risk | Conflicting classifications of pathogenicity | FARSA-related disorder, Melanoma, Familial cancer of breast |
| RS139805483 | Health Risk | Likely pathogenic | Rajab interstitial lung disease with brain calcifications 2, Rajab interstitial lung disease with brain calcifications 2 |
| RS1971301248 | Health Risk | Pathogenic | Rajab interstitial lung disease with brain calcifications 2, Rajab interstitial lung disease with brain calcifications 2 |
| RS375272364 | Health Risk | Pathogenic | Rajab interstitial lung disease with brain calcifications 2, Rajab interstitial lung disease with brain calcifications 2 |
| RS941586004 | Health Risk | Pathogenic | Rajab interstitial lung disease with brain calcifications 2, Rajab interstitial lung disease with brain calcifications 2 |