NM_000051.4:c.3161C>G

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  2. NM_000051.4:c.3161C>G

HGVS Expressions

  • NG_009830.1:g.54898C>G
  • NM_000051.4:c.3161C>G
  • NP_000042.3:p.Pro1054Arg

Associated Genes

Ataxia-Telangiectasia Mutated Gene
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Genomic Location

chr11:108272729

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Association

Variant Type

Substitution

dbSNP

1800057

Clinvar

132695

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.27LebanonAssociationBreast CancerJalkh et al, 2017 Patient 'B21' from family 2 in the publi...
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Contributors

  • Asha Deepthi: 01.09.2020

Edit History

  • Asha Deepthi: 30.09.2020
  • Asha Deepthi: 01.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.