NM_018136.5:c.2389C>T

HGVS Expressions

  • NG_015867.1:g.18315C>T
  • NM_018136.5:c.2389C>T
  • NP_060606.3:p.Arg797Ter
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Genomic Location

chr1:197133380

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

4965

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608716.1.1Algeria1PathogenicMicrocephaly 5, Primary, Autosomal RecessiveSaadi et al. 2009
608716.1.2Algeria1PathogenicMicrocephaly 5, Primary, Autosomal RecessiveSaadi et al. 2009 Sibling of 608716.1.1
608716.1.3Algeria1PathogenicMicrocephaly 5, Primary, Autosomal RecessiveSaadi et al. 2009 Sibling of 608716.1.1
608716.1.4Algeria1PathogenicSaadi et al. 2009 Mother of 608716.1.1
608716.4Morocco1Likely PathogenicMicrocephaly 5, Primary, Autosomal RecessivePassemard et al. 2009
608716.5Algeria; Lebanon1Likely PathogenicMicrocephaly 5, Primary, Autosomal RecessivePassemard et al. 2009
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