NM_003108.3:c.146T>A

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HGVS Expressions

  • NG_050751.1:g.5201T>A
  • NM_003108.3:c.146T>A
  • NP_003099.1:p.Ile49Asn
  • NC_000002.12:g.5692867T>A

Associated Genes

SRY-Box 11
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600898.1Lebanon1Likely PathogenicSOX11-Related SyndromeWakim et al. 2021
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Contributors

  • Sayeeda Hana: 31.03.2021

Edit History

  • Rahila Mir: 10.02.2022
  • Pratibha Nair: 28.04.2021
  • Sayeeda Hana: 31.03.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.