NM_018451.4:c.125_126del

HGVS Expressions

  • NG_009165.2:g.15047_15048del
  • NM_018451.4:c.125_126del
  • NP_060921.3:p.Lys42ArgfsTer15
  • NC_000013.11:g.24912901_24912902del

Associated Genes

Centromeric Protein J
Back to search Result
CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608393.1.1Saudi Arabia2PathogenicMicrocephaly 6, Primary, Autosomal RecessiveShaheen et al. 2019
608393.1.2Saudi Arabia2PathogenicMicrocephaly 6, Primary, Autosomal RecessiveShaheen et al. 2019 Sibling of 608393.1.1
608393.1.3Saudi Arabia2PathogenicMicrocephaly 6, Primary, Autosomal RecessiveShaheen et al. 2019 Sibling of 608393.1.1
© CAGS 2024. All rights reserved.