NM_170675.5:c.998_1000del

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HGVS Expressions

  • NG_029108.1:g.209628GAA[2]
  • NM_170675.5:c.998_1000del
  • NP_001207411.1:p.Arg333del
  • NC_000015.10:g.36896665TCT[2]

Associated Genes

MEIS Homeobox 2
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Microsatellite

dbSNP

879255264

Clinvar

224962

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600987.1United Arab Emirates1Likely PathogenicCleft Palate, Cardiac Defects, and Mental RetardationSaleh et al. 2021 de novo mutation
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Contributors

  • Pratibha Nair: 14.09.2021

Edit History

  • Sami Bizzari: 07.02.2023
  • Pratibha Nair: 09.01.2023
  • Rahila Mir: 09.02.2022
  • Pratibha Nair: 14.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.