NM_002161.6:c.1043_1044del

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  2. NM_002161.6:c.1043_1044del

HGVS Expressions

  • NG_051498.1:g.27154_27155del
  • NM_002161.6:c.1043_1044del
  • NP_002152.2:p.Pro348ArgfsTer26
  • NC_000009.12:g.92271602_92271603del

Associated Genes

Isoleucyl-tRNA Synthetase 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

776702276

Clinvar

2902124

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600709.1Qatar10.009Likely PathogenicDevadoss Gandhi et al. 2024 1 individual from a study of 14,060 Qata...
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Contributors

  • Sayeeda Hana: 18.12.2024

Edit History

  • Sayeeda Hana: 18.12.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.