NM_001256182.1:c.2368_2369delinsTTCT

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HGVS Expressions

  • NG_032003.2:g.211388_211389delinsTTCT
  • NM_001256182.1:c.2368_2369delinsTTCT
  • NC_000016.10:g.89284173_89284174delinsAGAA

Associated Genes

Ankyrin Repeat Domain-Containing Protein 11
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Indel

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
148050.2United Arab Emirates1Likely PathogenicKBG SyndromeSaleh et al. 2021 de novo mutation
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Contributors

  • Pratibha Nair: 15.09.2021

Edit History

  • Sami Bizzari: 05.12.2022
  • Rahila Mir: 09.02.2022
  • Pratibha Nair: 15.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.