NM_000465.4:c.253G>T

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  2. NM_000465.4:c.253G>T

HGVS Expressions

  • NG_012047.2:g.22297G>T
  • NM_000465.4:c.253G>T
  • NP_000456.2:p.Val85Leu

Associated Genes

BRCA1-Associated Ring Domain 1
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Genomic Location

chr2:214792408

Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

370359540

Clinvar

142450

Epidemiology in the Arab World

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

  • Asha Deepthi: 20.09.2020

Edit History

  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 20.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.