NM_001040436.3:c.137G>A

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  2. NM_001040436.3:c.137G>A

HGVS Expressions

  • NG_028122.1:g.5216G>A
  • NM_001040436.3:c.137G>A
  • NP_001035526.1:p.Gly46Asp

Associated Genes

Tyrosyl-tRNA Synthetase 2
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Genomic Location

chr12:32755738

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

587777213

Clinvar

102433

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613561.3Lebanon2PathogenicMyopathy, Lactoc Acidosis, and Sideroblastic Anemia 2Sasarman et al. 2012; Sasarman et al. 2002
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Contributors

  • Pratibha Nair: 30.03.2020

Edit History

  • Pratibha Nair: 30.03.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.