NM_001002029.3:c.(?_3231)_(3387_?)del

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HGVS Expressions

  • NM_001002029.3:c.(?_3231)_(3387_?)del

Associated Genes

Complement Component 4B
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

987922

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614379.1United Arab Emirates2PathogenicComplement Component 4B DeficiencyFathalla et al. 2021 Homozygous for an exon 26 deletion and a...
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Contributors

  • Sami Bizzari: 31.01.2022

Edit History

  • Sami Bizzari: 07.02.2022
  • Sami Bizzari: 01.02.2022
  • Sami Bizzari: 31.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.