NM_000051.4:c.2119T>C

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  2. NM_000051.4:c.2119T>C

HGVS Expressions

  • NG_009830.1:g.36203T>C
  • NM_000051.4:c.2119T>C
  • NP_000042.3:p.Ser707Pro

Associated Genes

Ataxia-Telangiectasia Mutated Gene
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Genomic Location

chr11:108254034

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Association

Variant Type

Substitution

dbSNP

4986761

Clinvar

128454

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.35LebanonAssociationBreast CancerJalkh et al, 2017 Patient 'B31' from family 9 in the publi...
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Contributors

  • Asha Deepthi: 01.09.2020

Edit History

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