NM_006726.4:c.6657_6658delCT

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  2. NM_006726.4:c.6657_6658delCT

HGVS Expressions

  • NG_032855.1:g.548831_548832delCT
  • NM_006726.4:c.6657_6658delCT
  • NP_006717.2:p.Glu2219Aspfs*3

Associated Genes

Lipopolysaccharide-Responsive, Beige-Like Anchor Protein
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Genomic Location

chr4:150471666-150471667

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614700.4.1Saudi Arabia2PathogenicImmunodeficiency, Common Variable, 8, with AutoimmunityAlangari et al, 2012
614700.4.2Saudi Arabia2PathogenicImmunodeficiency, Common Variable, 8, with AutoimmunityAlangari et al, 2012 Sister of 614700.4.1
614700.4.3Saudi Arabia2PathogenicImmunodeficiency, Common Variable, 8, with AutoimmunityAlangari et al, 2012 Sister of 614700.4.1
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Contributors

  • Sayeeda Hana: 29.08.2019

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 29.08.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.