NM_001011649.3:c.4005-15A>G

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HGVS Expressions

  • NG_008999.1:g.165185A>G
  • NM_001011649.3:c.4005-15A>G
  • NC_000009.12:g.120419975T>C

Associated Genes

CDK5 Regulatory Subunit-Associated Protein 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

387906274

Clinvar

2489

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604804.2Egypt2PathogenicMicrocephaly 3, Primary, Autosomal RecessiveShaheen et al. 2019
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Contributors

  • Sayeeda Hana: 11.11.2021

Edit History

  • Sayeeda Hana: 11.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.