NM_001206999.1:c.1111+1G>A

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HGVS Expressions

  • NG_029792.1:g.59473G>A
  • NM_001206999.1:c.1111+1G>A
  • NC_000012.12:g.119822819C>T

Associated Genes

Citron Rho-Interacting Serine/Threonine Kinase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

879255522

Clinvar

252992

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617090.1Egypt2PathogenicMicrocephaly 17, Primary, Autosomal RecessiveShaheen et al. 2019; Shaheen et al. 2016a
617090.5Egypt2NAPathogenicMicrocephaly 17, Primary, Autosomal RecessiveHarding et al. 2016 'Proband A' in the publication. This pat...
617090.5.GEgypt4NAHarding et al. 2016 Relatives of 617090.5 (parents + two sib...
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Contributors

  • Sayeeda Hana: 21.11.2021

Edit History

  • Asha Deepthi: 03.11.2022
  • Sayeeda Hana: 21.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.