NM_144997.7:c.1387T>C

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HGVS Expressions

  • NG_008001.2:g.26959T>C
  • NM_144997.7:c.1387T>C
  • NP_659434.2:p.Tyr463His

Associated Genes

Folliculin
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Genomic Location

chr17:17215230

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

770077517

Clinvar

409380

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.37LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B33' from family 10 in the publ...
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Contributors

  • Asha Deepthi: 22.09.2020

Edit History

  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 05.10.2020
  • Asha Deepthi: 22.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.