NM_007294.4:c.4327C>T

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  2. NM_007294.4:c.4327C>T

HGVS Expressions

  • NG_005905.2:g.135550C>T
  • NM_007294.4:c.4327C>T
  • NP_009225.1:p.Arg1443Ter

Associated Genes

Breast Cancer 1 Gene
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Genomic Location

chr17:43082434

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

41293455

Clinvar

17675

Epidemiology in the Arab World

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

  • Asha Deepthi: 31.08.2020

Edit History

  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 31.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.