NM_000821.6:c.1502G>C

HGVS Expressions

  • NG_011811.2:g.14616G>C
  • NM_000821.6:c.1502G>C
  • NP_000812.2:p.Trp501Ser
  • NC_000002.12:g.85551919C>G
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

16195

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277450.1.1Lebanon2PathogenicVitamin K-Dependent Clotting Factors, Combined Deficiency of, 1Spronk et al., 2000
277450.1.2Lebanon1PathogenicSpronk et al., 2000 Mother of 277450.1.1
277450.1.3Lebanon1PathogenicSpronk et al., 2000 Father of 277450.1.1
277450.2.1Lebanon2PathogenicVitamin K-Dependent Clotting Factors, Combined Deficiency of, 1Mousallem et al., 2001
277450.2.2Lebanon1PathogenicMousallem et al., 2001 Sister of 277450.2.1
277450.2.3Lebanon1PathogenicMousallem et al., 2001 Mother of 277450.2.1
277450.2.4Lebanon1PathogenicMousallem et al., 2001 Father of 277450.2.1
277450.2.5Lebanon1PathogenicMousallem et al., 2001 Paternal grandmother of 277450.2.1
277450.2.6Lebanon1PathogenicMousallem et al., 2001 Maternal grandfather of 277450.2.1
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