NM_003482.3:c.11679del

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HGVS Expressions

  • NG_027827.1:g.27299del
  • NM_003482.3:c.11679del
  • NP_003473.3:p.Met3894TrpfsTer85
  • NC_000012.12:g.49033028del

Associated Genes

Lysine-Specific Methyltransferase 2D
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1943027165

Clinvar

981754

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
147920.4United Arab Emirates1PathogenicKabuki Syndrome 1Saleh et al. 2021 de novo mutation
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Contributors

  • Pratibha Nair: 12.09.2021

Edit History

  • Pratibha Nair: 14.09.2021
  • Pratibha Nair: 12.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.