NM_001206999.2:c.753+3A>T

HGVS Expressions

  • NG_029792.1:g.49524A>T
  • NM_001206999.2:c.753+3A>T
  • NC_000012.12:g.119832768T>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

254139

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617090.2Saudi Arabia2PathogenicMicrocephaly 17, Primary, Autosomal RecessiveShaheen et al. 2019; Shaheen et al. 2016a
617090.G.1Saudi Arabia8NAPathogenicMicrocephaly 17, Primary, Autosomal RecessiveBasit et al. 2016 Four siblings including identical twins ...
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