NM_000131.4:c.291+1G>C

HGVS Expressions

  • NG_009262.1:g.10061G>C
  • NM_000131.4:c.291+1G>C
  • NC_000013.11:g.113110851G>C

Associated Genes

Coagulation Factor VII
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
227500.1.1Lebanon2PathogenicFactor VII DeficiencyFarah et al, 2015 Also related to the families of 227500.2...
227500.1.2Lebanon2PathogenicFactor VII DeficiencyFarah et al, 2015 Sister of 227500.1.1
227500.1.3Lebanon1PathogenicFarah et al, 2015 Unaffected sister of 227500.1.1
227500.1.4Lebanon1PathogenicFarah et al, 2015 Unaffected sister of 227500.1.1
227500.1.5Lebanon1PathogenicFarah et al, 2015 Unaffected father of 227500.1.1
227500.1.6Lebanon1PathogenicFarah et al, 2015 Unaffected mother of 227500.1.1
227500.2.1Lebanon2PathogenicFactor VII DeficiencyFarah et al, 2015 Also related to the families of 227500.1...
227500.2.2Lebanon2PathogenicFactor VII DeficiencyFarah et al, 2015 Sister of 227500.2.1
227500.2.3Lebanon2PathogenicFactor VII DeficiencyFarah et al, 2015 Half-brother of 227500.2.1
227500.2.4Lebanon2PathogenicFactor VII DeficiencyFarah et al, 2015 Half-brother of 227500.2.1
227500.2.5Lebanon1PathogenicFarah et al, 2015 Unaffected father of 227500.2.1
227500.2.6Lebanon1PathogenicFarah et al, 2015 Unaffected mother of 227500.2.1
227500.3.1Lebanon2PathogenicFactor VII DeficiencyFarah et al, 2015 Also related to the families of 227500.1...
227500.3.2Lebanon1PathogenicFarah et al, 2015 Unaffected brother of 227500.3.1
227500.3.3Lebanon1PathogenicFarah et al, 2015 Unaffected sister of 227500.3.1
227500.3.4Lebanon1PathogenicFarah et al, 2015 Unaffected father of 227500.3.1
227500.3.5Lebanon1PathogenicFarah et al, 2015 Unaffected mother of 227500.3.1
227500.4.1Lebanon2PathogenicFactor VII DeficiencyFarah et al, 2015
227500.4.2Lebanon1PathogenicFarah et al, 2015 Unaffected brother of 227500.4.1
227500.4.3Lebanon1PathogenicFarah et al, 2015 Unaffected brother of 227500.4.1
227500.4.4Lebanon1PathogenicFarah et al, 2015 Unaffected father of 227500.4.1
227500.4.5Lebanon1PathogenicFarah et al, 2015 Unaffected mother of 227500.4.1
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