NM_000131.4:c.1238G>A

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HGVS Expressions

  • NG_009262.1:g.18055G>A
  • NM_000131.4:c.1238G>A
  • NP_000122.1:p.Arg413Gln

Associated Genes

Coagulation Factor VII
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Genomic Location

chr13:113118845

Clinvar Clinical Significance

Benign, Risk factor

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

6046

Clinvar

12080

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
227500.6Arab2NAUncertain SignificanceFactor VII DeficiencyFerraresi et al, 2020 Proband #377 in the publication
227500.7Arab1NAUncertain SignificanceFactor VII DeficiencyFerraresi et al, 2020 Proband #284 in the publication
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Contributors

  • Asha Deepthi: 08.12.2020

Edit History

  • Asha Deepthi: 08.12.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.