NM_001080517.2:c.2347-7A>G

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HGVS Expressions

  • NG_034132.1:g.61033A>G
  • NM_001080517.2:c.2347-7A>G
  • NP_001073986.1:p.?
  • NC_000003.12:g.9453732A>G

Associated Genes

Set Domain-Containing Protein 5
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

886041593

Clinvar

280376

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615761.1United Arab Emirates1PathogenicMental Retardation, Autosomal Dominant 23Saleh et al. 2021 de novo mutation
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Contributors

  • Pratibha Nair: 14.09.2021

Edit History

  • Asha Deepthi: 07.12.2022
  • Pratibha Nair: 14.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.