NM_000051.3:c.7630-2A>C

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HGVS Expressions

  • NG_009830.1:g.114046A>C
  • NM_000051.3:c.7630-2A>C

Associated Genes

Ataxia-Telangiectasia Mutated Gene
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Genomic Location

chr11:108331877

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

587779866

Clinvar

127447

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
208900.1Lebanon1PathogenicAtaxia-TelangiectasiaNair et al. 2018
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Contributors

  • Pratibha Nair: 19.04.2020

Edit History

  • Sami Bizzari: 07.05.2020
  • Pratibha Nair: 19.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.