NM_022455.5:c.2058T>A

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HGVS Expressions

  • NG_009821.1:g.82379T>A
  • NM_022455.5:c.2058T>A
  • NP_071900.2:p.Tyr686Ter
  • NC_000005.10:g.177210457T>A

Associated Genes

Nuclear Receptor-Binding Set Domain Protein1
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

786205576

Clinvar

191203

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
117550.3Saudi Arabia1NAPathogenicSotos 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.