NM_000132.3:c.6907C>T

HGVS Expressions

  • NG_011403.1:g.189978C>T
  • NM_000132.3:c.6907C>T
  • NP_000123.1:p.Gln2303Ter
  • NC_000023.11:g.154837746G>A

Associated Genes

Coagulation Factor VIII
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
306700.G.1Lebanon3Likely PathogenicHemophilia ADjambas Khayat et al. 2008 79 hemophilia patients from 55 Lebanese ...
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