NM_024675.4:c.2993G>A

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  2. NM_024675.4:c.2993G>A

HGVS Expressions

  • NG_007406.1:g.23386G>A
  • NM_024675.4:c.2993G>A
  • NP_078951.2:p.Gly998Glu

Associated Genes

Partner and Localizer of BRCA2
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Genomic Location

chr16:23622972

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Association

Variant Type

Substitution

dbSNP

45551636

Clinvar

126699

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.40LebanonAssociationBreast CancerJalkh et al, 2017 Patient 'B36' from family 13 in the publ...
114480.47LebanonAssociationBreast CancerJalkh et al, 2017 Patient 'B43' from family 20 in the publ...
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Contributors

  • Asha Deepthi: 14.09.2020

Edit History

  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 14.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.