NM_001193466.2:c.808_809delCT

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HGVS Expressions

  • NG_032784.1:g.59039_59040del
  • NM_001193466.2:c.808_809delCT
  • NP_001180395.1:p.Leu270ValfsTer11
  • NC_000017.11:g.46171335_46171336del

Associated Genes

KAT8 Regulatory NSL Complex, Subunit 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

551541795

Clinvar

468412

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610443.1Lebanon1Likely PathogenicKoolen-De Vries SyndromeNair et al. 2018
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Contributors

  • Pratibha Nair: 15.04.2020

Edit History

  • Pratibha Nair: 22.11.2022
  • Pratibha Nair: 10.05.2021
  • Sayeeda Hana: 27.09.2020
  • Pratibha Nair: 15.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.