NM_006502.3:c.2074A>G

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  2. NM_006502.3:c.2074A>G

HGVS Expressions

  • NG_009252.1:g.43349A>G
  • NM_006502.3:c.2074A>G
  • NP_006493.1:p.Thr692Ala

Associated Genes

Polymerase, DNA, ETA
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Genomic Location

chr6:43614489

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

199562456

Clinvar

870901

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.54LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B50' from family 25 in the publ...
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Contributors

  • Asha Deepthi: 28.09.2020

Edit History

  • Sami Bizzari: 08.06.2021
  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 28.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.