NM_000128.3:c.682C>T

HGVS Expressions

  • NG_008051.1:g.15354C>T
  • NM_000128.3:c.682C>T
  • NP_000119.1:p.Arg228Ter
  • NC_000004.12:g.186276317C>T

Associated Genes

Coagulation Factor XI
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

188795

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612416.4.1Lebanon1PathogenicFactor XI DeficiencyQuélin et al, 2004
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