NM_000128.3:c.403G>T

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HGVS Expressions

  • NG_008051.1:g.13230G>T
  • NM_000128.3:c.403G>T
  • NP_000119.1:p.Glu135Ter

Associated Genes

Coagulation Factor XI
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Genomic Location

chr4:186274193

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121965063

Clinvar

11891

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612416.G.1Lebanon12PathogenicFactor XI DeficiencyGermanos-Haddad et al, 2005 Group of 6 patients
612416.G.2Lebanon2PathogenicFactor XI DeficiencyGermanos-Haddad et al, 2005 Group of 2 patients
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Contributors

  • Sayeeda Hana: 23.03.2020

Edit History

  • Sayeeda Hana: 23.03.2020
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© CAGS 2024. All rights reserved.