NM_024675.4:c.2014G>C

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  2. NM_024675.4:c.2014G>C

HGVS Expressions

  • NG_007406.1:g.16218G>C
  • NM_024675.4:c.2014G>C
  • NP_078951.2:p.Glu672Gln

Associated Genes

Partner and Localizer of BRCA2
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Genomic Location

chr16:23630140

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

45532440

Clinvar

126630

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.47LebanonLikely PathogenicBreast 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.