NM_001199282.2:c.2963del

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  2. NM_001199282.2:c.2963del

HGVS Expressions

  • NG_032855.1:g.167751del
  • NM_001199282.2:c.2963del
  • NP_001186211.2:p.Asn988fs

Associated Genes

Lipopolysaccharide-Responsive, Beige-Like Anchor Protein
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Genomic Location

chr4:150852747

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

864696

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614700.1.1Lebanon2PathogenicImmunodeficiency, Common Variable, 8, with AutoimmunityAlkhairy et al. 2016
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Contributors

  • Sayeeda Hana: 29.08.2019

Edit History

  • Sami Bizzari: 30.05.2021
  • Sayeeda Hana: 03.09.2020
  • Sayeeda Hana: 29.08.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.