NM_001048166.1:c.3552_3553del

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HGVS Expressions

  • NG_012126.1:g.67697_67698del
  • NM_001048166.1:c.3552_3553del
  • NP_001041631.1:p.Cys1184_Glu1185delinsTer
  • NC_000001.11:g.47251452_47251453del

Associated Genes

SCL/TAL1-Interrupting Locus
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

746522203

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612703.1Saudi Arabia2PathogenicMicrocephaly 7, Primary, Autosomal RecessiveShaheen et al. 2019
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Contributors

  • Sayeeda Hana: 17.11.2021

Edit History

  • Rahila Mir: 08.02.2022
  • Sayeeda Hana: 17.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.