NM_000448.2:c.2942A>C

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HGVS Expressions

  • NG_007528.1:g.13234A>C
  • NM_000448.2:c.2942A>C
  • NP_000439.1:p.Gln981Pro
  • NC_000011.10:g.36576246A>C

Associated Genes

Recombination-Activating Gene 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104894288

Clinvar

13155

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609889.2.1Morocco2PathogenicAlpha/Beta T-Cell Lymphoma with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunityde Villartay et al., 2005
609889.2.2Morocco1Pathogenicde Villartay et al., 2005 Mother of 609889.2.1
609889.2.3Morocco1Pathogenicde Villartay et al., 2005 Father of 609889.2.1
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Contributors

  • Pratibha Nair: 15.10.2018

Edit History

  • Pratibha Nair: 08.11.2022
  • Pratibha Nair: 09.01.2019
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© CAGS 2024. All rights reserved.