NM_002691.4:c.519C>G

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HGVS Expressions

  • NG_033800.1:g.22732C>G
  • NM_002691.4:c.519C>G
  • NP_002682.2:p.Ser173Arg

Associated Genes

Polymerase (DNA-Directed), Delta 1, Catalytic Subunit
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Genomic Location

chr19:50402054

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

1555789901

Clinvar

469359

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: 13.09.2020

Edit History

  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 13.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.