NM_003482.4:c.1622_1635del

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HGVS Expressions

  • NG_027827.1:g.8264_8277del
  • NM_003482.4:c.1622_1635del
  • NP_003473.3:p.Glu541ValfsTer5
  • NC_000012.12:g.49052052_49052065del

Associated Genes

Lysine-Specific Methyltransferase 2D
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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
147920.5United Arab Emirates1Likely PathogenicKabuki Syndrome 1Saleh et al. 2021 de novo mutation
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Contributors

  • Pratibha Nair: 15.09.2021

Edit History

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