NM_000051.4:c.5071A>C

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HGVS Expressions

  • NG_009830.1:g.81948A>C
  • NM_000051.4:c.5071A>C
  • NP_000042.3:p.Ser1691Arg

Associated Genes

Ataxia-Telangiectasia Mutated Gene
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Genomic Location

chr11:108299779

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

1800059

Clinvar

127399

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.49LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B45' from family 22 in the publ...
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Contributors

  • Asha Deepthi: 01.09.2020

Edit History

  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 01.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.