NM_153240.5:c.2694-2_2694-1del

HGVS Expressions

  • NG_008130.2:g.38168_38169del
  • NM_153240.5:c.2694-2_2694-1del
  • NC_000003.12:g.132689264_132689265del

Associated Genes

Nephrocystin 3
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

220868

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
208540.1Saudi Arabia2Likely PathogenicRenal-Hepatic-Pancreatic Dysplasia 1Monies et al. 2019
208540.2Saudi Arabia2Likely PathogenicRenal-Hepatic-Pancreatic Dysplasia 1Monies et al. 2019
208540.3Saudi Arabia2Likely PathogenicRenal-Hepatic-Pancreatic Dysplasia 1Monies et al. 2019
267010.1.1Saudi Arabia1Monies et al. 2019 Mother of 267010.1.G
267010.1.2Saudi Arabia1Monies et al. 2019 Father of 267010.1.G
267010.2.1Saudi Arabia1Monies et al. 2019 Mother of 267010.2.G
267010.2.2Saudi Arabia1Monies et al. 2019 Father of 267010.2.G
267010.3Saudi Arabia2Likely PathogenicMeckel Syndrome, Type 7Monies et al. 2019
267010.4Saudi Arabia2Likely PathogenicMeckel Syndrome, Type 7Monies et al. 2019
267010.5Saudi Arabia2Likely PathogenicMeckel Syndrome, Type 7Monies et al. 2019
267010.1.GSaudi Arabia4Likely PathogenicMeckel Syndrome, Type 7Monies et al. 2019 Two deceased neonates
267010.2.GSaudi Arabia4Likely PathogenicMeckel Syndrome, Type 7Monies et al. 2019 Two deceased neonates
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