NM_001199282.2:c.2032C>T

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HGVS Expressions

  • NG_032855.1:g.124069C>T
  • NM_001199282.2:c.2032C>T
  • NP_001186211.2:p.Gln678Ter

Associated Genes

Lipopolysaccharide-Responsive, Beige-Like Anchor Protein
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Genomic Location

chr4:150896429

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

727503780

Clinvar

162667

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614700.2.1Saudi Arabia2PathogenicImmunodeficiency, Common Variable, 8, with AutoimmunityCharbonnier et al, 2015
614700.2.2Saudi Arabia1PathogenicCharbonnier et al, 2015 Unaffected father of 614700.2.1
614700.2.3Saudi Arabia1PathogenicCharbonnier et al, 2015 Unaffected mother of 614700.2.1
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Contributors

  • Sayeeda Hana: 29.08.2019

Edit History

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