NM_002485.5:c.340G>T

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HGVS Expressions

  • NG_008860.1:g.8798G>T
  • NM_002485.5:c.340G>T
  • NP_002476.2:p.Val114Phe

Associated Genes

Nibrin
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Genomic Location

chr8:89980874

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

771034958

Clinvar

219644

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: 28.09.2020

Edit History

  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 28.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.