NM_000377.2:c.559+5G>C

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HGVS Expressions

  • NG_007877.1:g.7343G>C
  • NM_000377.2:c.559+5G>C
  • NP_000368.1:p.?
  • NC_000023.11:g.48686139G>C

Associated Genes

WAS Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

886039451

Clinvar

265290

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
301000.1.1Saudi Arabia1PathogenicWiskott-Aldrich SyndromeAbu-Amero et al. 2004 Sibling of 301000.1.2
301000.1.2Saudi Arabia1PathogenicWiskott-Aldrich SyndromeAbu-Amero et al. 2004 Sibling of 301000.1.1
301000.1.3Saudi Arabia1PathogenicAbu-Amero et al. 2004 Mother of 301000.1.1 and 301000.1.2
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Contributors

  • Pratibha Nair: 03.07.2018

Edit History

  • Pratibha Nair: 08.11.2022
  • Pratibha Nair: 02.01.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.