NM_000548.5:c.2834A>G

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  2. NM_000548.5:c.2834A>G

HGVS Expressions

  • NG_005895.1:g.32277A>G
  • NM_000548.5:c.2834A>G
  • NP_000539.2:p.Lys945Arg

Associated Genes

TSC2 Gene
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Genomic Location

chr16:2076582

Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

886051791

Clinvar

318323

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.52LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B48' from family 38 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.