NM_001011649.2:c.384_2106del

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HGVS Expressions

  • NM_001011649.2:c.384_2106del
  • NP_001011649.1:p.Lys129PhefsTer22
  • NC_000009.12:g.120467862_120539166del

Associated Genes

CDK5 Regulatory Subunit-Associated Protein 2
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604804.1.1Saudi Arabia1Likely PathogenicMicrocephaly 3, Primary, Autosomal RecessiveShaheen et al. 2019
604804.1.2Saudi Arabia1Likely PathogenicMicrocephaly 3, Primary, Autosomal RecessiveShaheen et al. 2019 Relative of 604804.1.1
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Contributors

  • Sayeeda Hana: 11.11.2021

Edit History

  • Rahila Mir: 08.02.2022
  • Sayeeda Hana: 11.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.