NM_032856.3:c.703C>T

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HGVS Expressions

  • NG_042034.1:g.13693C>T
  • NM_032856.3:c.703C>T
  • NP_116245.2:p.Gln235Ter
  • NC_000015.10:g.84645651G>A

Associated Genes

WD Repeat-Containing Protein 73
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

797044992

Clinvar

208465

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
251300.4.1Egypt2PathogenicGalloway-Mowat Syndrome 1Ben-Omran et al, 2015
251300.4.2Egypt2PathogenicGalloway-Mowat Syndrome 1Ben-Omran et al, 2015 Sibling of 251300.4.1
251300.4.3Egypt1PathogenicBen-Omran et al, 2015 Father of 251300.4.1
251300.4.4Egypt1PathogenicBen-Omran et al, 2015 Mother of 251300.4.1
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Contributors

  • Sami Bizzari: 28.07.2019

Edit History

  • Pratibha Nair: 22.11.2022
  • Sami Bizzari: 07.05.2020
  • Sami Bizzari: 28.07.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.