NM_001206999.2:c.29_38del

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HGVS Expressions

  • NG_029792.1:g.6152_6161del
  • NM_001206999.2:c.29_38del
  • NP_001193928.1:p.Asn10MetfsTer15
  • NC_000012.12:g.119876134_119876143del

Associated Genes

Citron Rho-Interacting Serine/Threonine Kinase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

879253817

Clinvar

221283

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617090.6United Arab Emirates2NAPathogenicMicrocephaly 17, Primary, Autosomal RecessiveHarding et al. 2016 'Proband B' in the publication. This pat...
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Contributors

  • Asha Deepthi: 03.11.2022

Edit History

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