NM_006231.4:c.3890C>T

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  2. NM_006231.4:c.3890C>T

HGVS Expressions

  • NG_033840.1:g.43104C>T
  • NM_006231.4:c.3890C>T
  • NP_006222.2:p.Ser1297Leu

Associated Genes

Polymerase, DNA, Epsilon
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Genomic Location

chr12:132649421

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

746585658

Clinvar

240486

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.29LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B23' from family 4 in the publi...
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Contributors

  • Asha Deepthi: 09.09.2020

Edit History

  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 30.09.2020
  • Asha Deepthi: 09.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.