NM_006231.4:c.2276G>A

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  2. NM_006231.4:c.2276G>A

HGVS Expressions

  • NG_033840.1:g.24979G>A
  • NM_006231.4:c.2276G>A
  • NP_006222.2:p.Arg759His

Associated Genes

Polymerase, DNA, Epsilon
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Genomic Location

chr12:132667546

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

746774432

Clinvar

240431

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.39LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B35' from family 12 in the publ...
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Contributors

  • Asha Deepthi: 09.09.2020

Edit History

  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 09.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.