NM_032043.3:c.2220G>T

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HGVS Expressions

  • NG_007409.2:g.124091G>T
  • NM_032043.3:c.2220G>T
  • NP_114432.2:p.Gln740His

Associated Genes

BRCA1-Interacting Protein
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Genomic Location

chr17:61744469

Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

45589637

Clinvar

133752

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.49LebanonLikely PathogenicBreast CancerJalkh et al, 2017 Patient 'B45' from family 22 in the publ...
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Contributors

  • Asha Deepthi: 21.09.2020

Edit History

  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 21.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.