NM_018136.5:c.3742-1G>C

HGVS Expressions

  • NG_015867.1:g.29651G>C
  • NM_018136.5:c.3742-1G>C
  • NC_000001.11:g.197122044C>G
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608716.10.1Saudi Arabia2PathogenicMicrocephaly 5, Primary, Autosomal RecessiveShaheen et al. 2019
608716.10.2Saudi Arabia2PathogenicMicrocephaly 5, Primary, Autosomal RecessiveShaheen et al. 2019 Sibling of 608716.10.1
608716.10.3Saudi Arabia2PathogenicMicrocephaly 5, Primary, Autosomal RecessiveShaheen et al. 2019 Sibling of 608716.10.1
608716.10.4Saudi Arabia2PathogenicMicrocephaly 5, Primary, Autosomal RecessiveShaheen et al. 2019 Sibling of 608716.10.1
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