NM_170677.4:c.1010_1012del

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  2. NM_170677.4:c.1010_1012del

HGVS Expressions

  • NM_170677.4:c.1010_1012del
  • NP_733777.1:p.Pro337_Met338delinsLeu
  • NC_000015.10:g.36896652_36896654del

Associated Genes

MEIS Homeobox 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
600987.2United Arab Emirates1Likely PathogenicCleft Palate, Cardiac Defects, and Mental RetardationSaleh et al. 2021 de novo mutation
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Contributors

  • Pratibha Nair: 16.09.2021

Edit History

  • Rahila Mir: 09.02.2022
  • Pratibha Nair: 16.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.