NM_000251.3:c.1787A>G

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  2. NM_000251.3:c.1787A>G

HGVS Expressions

  • NG_007110.2:g.76929A>G
  • NM_000251.3:c.1787A>G
  • NP_000242.1:p.Asn596Ser

Associated Genes

Muts Homolog 2
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Genomic Location

chr2:47475052

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

41295288

Clinvar

41646

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.44LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B40' from family 17 in the publ...
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Contributors

  • Asha Deepthi: 15.09.2020

Edit History

  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 15.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.