NM_001199282.2:c.865_866delGT

HGVS Expressions

  • NG_032855.1:g.104068_104068delGT
  • NM_001199282.2:c.865_866delGT
  • NP_001186211.2:p.Cys289CysfsX292
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Genomic Location

chr4:150916429-150916430

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614700.3.1Lebanon2PathogenicImmunodeficiency, Common Variable, 8, with AutoimmunityCharbonnier et al, 2015 Proband
614700.3.2Lebanon2PathogenicImmunodeficiency, Common Variable, 8, with AutoimmunityCharbonnier et al, 2015 Sister of 614700.3.1
614700.3.3Lebanon1PathogenicCharbonnier et al, 2015 Unaffected father of 614700.3.1
614700.3.4Lebanon1PathogenicCharbonnier et al, 2015 Unaffected mother of 614700.3.1
614700.3.5Lebanon1PathogenicCharbonnier et al, 2015 Unaffected sister of 614700.3.1
614700.3.6Lebanon1PathogenicCharbonnier et al, 2015 Unaffected sister of 614700.3.1
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