NM_000051.4:c.496+4T>C

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  2. NM_000051.4:c.496+4T>C

HGVS Expressions

  • NG_009830.1:g.18007T>C
  • NM_000051.4:c.496+4T>C

Associated Genes

Ataxia-Telangiectasia Mutated Gene
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Genomic Location

chr11:108235838

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

587781375

Clinvar

140926

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.31LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B25' from family 6 in the publi...
114480.32LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B26' from family 7 in the publi...
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Contributors

  • Asha Deepthi: 01.09.2020

Edit History

  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 30.09.2020
  • Asha Deepthi: 01.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.