NM_001286577.1:c.195G>C

HGVS Expressions

  • NG_041791.1:g.7546G>C
  • NM_001286577.1:c.195G>C
  • NP_001273506.1:p.Trp65Cys
  • NC_000011.10:g.74168474C>G
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

800804

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615948.2.1Palestine1PathogenicOrofaciodigital Syndrome XIVCortés et al, 2016 20 weeks old fetus
615948.2.2Palestine1PathogenicOrofaciodigital Syndrome XIVCortés et al, 2016 Brother of 615948.2.1. 15 weeks old fetu...
615948.2.3Palestine1PathogenicCortés et al, 2016 Father of 615948.2.1
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