NM_000128.3:c.1778C>T

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  2. NM_000128.3:c.1778C>T

HGVS Expressions

  • NG_008051.1:g.27551C>T
  • NM_000128.3:c.1778C>T
  • NP_000119.1:p.Thr593Met
  • NC_000004.12:g.186288514C>T

Associated Genes

Coagulation Factor XI
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

145906668

Clinvar

371214

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612416.1.1Lebanon2PathogenicFactor XI DeficiencyGermanos-Haddad et al, 2005
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Contributors

  • Sayeeda Hana: 23.03.2020

Edit History

  • Pratibha Nair: 22.11.2022
  • Sayeeda Hana: 23.03.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.