NM_000551.4:c.631A>C

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HGVS Expressions

  • NG_008212.3:g.13320A>C
  • NM_000551.4:c.631A>C
  • NP_000542.1:p.Met211Leu

Associated Genes

VHL Gene
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Genomic Location

chr3:10149954

Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

200019083

Clinvar

182990

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
114480.28LebanonUncertain SignificanceBreast CancerJalkh et al, 2017 Patient 'B22' from family 3 in the publi...
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Contributors

  • Asha Deepthi: 08.09.2020

Edit History

  • Asha Deepthi: 26.01.2021
  • Asha Deepthi: 30.09.2020
  • Asha Deepthi: 08.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.