NM_152732.4:c.804_806del

HGVS Expressions

  • NG_023436.1:g.30893_30895del
  • NM_152732.4:c.804_806del
  • NP_689945.2:p.Lys268del
  • NC_000006.12:g.43670922_43670924del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Microsatellite

Clinvar

66994

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
244400.1.1Palestine2PathogenicCiliary Dyskinesia, Primary, 12Castleman et al. 2009; Reish et al. 2010 Index patient from a Bedouin family
244400.1.2Palestine2PathogenicCiliary Dyskinesia, Primary, 12Castleman et al. 2009; Reish et al. 2010 Brother of 244400.1.1
244400.1.3Palestine2PathogenicCiliary Dyskinesia, Primary, 12Castleman et al. 2009; Reish et al. 2010 Brother of 244400.1.1
244400.1.4Palestine2PathogenicCiliary Dyskinesia, Primary, 12Castleman et al. 2009; Reish et al. 2010 Niece of 244400.1.1
244400.2.1United Arab Emirates2PathogenicCiliary Dyskinesia, Primary, 12Stannard et al. 2004; Castleman et al. 2009; Reish et al. 2010 Index patient from a family belonging to...
244400.2.2United Arab Emirates2PathogenicCiliary Dyskinesia, Primary, 12Stannard et al. 2004; Castleman et al. 2009; Reish et al. 2010 Brother of 244400.2.1
244400.2.3United Arab Emirates2PathogenicCiliary Dyskinesia, Primary, 12Stannard et al. 2004; Castleman et al. 2009; Reish et al. 2010 Sister of 244400.2.1
612650.1Saudi Arabia2Likely PathogenicCiliary Dyskinesia, Primary, 12Monies et al. 2019
612650.2Saudi Arabia2Likely PathogenicCiliary Dyskinesia, Primary, 12Monies et al. 2019
612650.3Saudi Arabia2Likely PathogenicCiliary Dyskinesia, Primary, 12Monies et al. 2019
612650.4Saudi Arabia2Likely PathogenicCiliary Dyskinesia, Primary, 12Monies et al. 2019
612650.5Saudi Arabia2Likely PathogenicCiliary Dyskinesia, Primary, 12Monies et al. 2019
612650.6Saudi Arabia2Likely PathogenicCiliary Dyskinesia, Primary, 12Monies et al. 2019 Similarly affected sibling
612650.7Saudi Arabia2Likely PathogenicCiliary Dyskinesia, Primary, 12Monies et al. 2019
612650.8Saudi Arabia2Likely PathogenicCiliary Dyskinesia, Primary, 12Monies et al. 2019
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