NM_001011649.3:c.140del

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  2. NM_001011649.3:c.140del

HGVS Expressions

  • NG_008999.1:g.16784del
  • NM_001011649.3:c.140del
  • NP_001011649.1:p.Val47fs
  • NC_000009.12:g.120568376del

Associated Genes

CDK5 Regulatory Subunit-Associated Protein 2
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

786205660

Clinvar

191346

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

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