NM_000251.3:c.1045C>G

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HGVS Expressions

  • NG_007110.2:g.18275C>G
  • NM_000251.3:c.1045C>G
  • NP_000242.1:p.Pro349Ala
  • NC_000002.12:g.47416398C>G

Associated Genes

Muts Homolog 2
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

267607939

Clinvar

90512

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.32LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B26' from family 7 in the publi...
114480.53LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B49' from family 24 in the publ...
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Contributors

  • Asha Deepthi: 15.09.2020

Edit History

  • Pratibha Nair: 09.11.2022
  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 30.09.2020
  • Asha Deepthi: 15.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.