NM_000131.4:c.571+78G>A

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  2. NM_000131.4:c.571+78G>A

HGVS Expressions

  • NG_009262.1:g.15088G>A
  • NM_000131.4:c.571+78G>A

Associated Genes

Coagulation Factor VII
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Genomic Location

chr13:113115878

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

764741909

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
227500.5Arab1NAPathogenicFactor VII DeficiencyFerraresi et al, 2020 Proband #17 in the publication
227500.7Arab1NAPathogenicFactor VII DeficiencyFerraresi et al, 2020 Proband #284 in the publication
227500.8Lebanon2NAPathogenicFactor VII DeficiencyFerraresi et al, 2020 Proband #90 in the publication
227500.9Tunisia2NAPathogenicFactor VII DeficiencyFerraresi et al, 2020 Proband #15 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.