NM_022455.5:c.1893del

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HGVS Expressions

  • NG_009821.1:g.82214del
  • NM_022455.5:c.1893del
  • NP_071900.2:p.Lys631AsnfsTer22
  • NC_000005.10:g.177210292del

Associated Genes

Nuclear Receptor-Binding Set Domain Protein1
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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
117550.4Saudi Arabia1NALikely PathogenicSotos Syndrome 1Maddirevula et al. 2018 De novo mutation
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Contributors

  • Asha Deepthi: 08.02.2022

Edit History

  • Asha Deepthi: 08.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.