NM_001291867.2:c.2295del

HGVS Expressions

  • NG_011553.2:g.355982del
  • NM_001291867.2:c.2295del
  • NP_001278796.1:p.Lys765AsnfsTer15
  • NC_000023.11:g.17726401del

Associated Genes

NHS Gene
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
302350.1.1Saudi Arabia1PathogenicNance-Horan SyndromeKhan et al. 2012; Patel et al. 2017 Belongs to a large multiplex Saudi famil...
302350.1.2Saudi Arabia1PathogenicNance-Horan SyndromeKhan et al. 2012; Patel et al. 2017 Sister of 302350.1.1
302350.1.3Saudi Arabia1PathogenicNance-Horan SyndromeKhan et al. 2012; Patel et al. 2017 Nephew of 302350.1.1
302350.1.4Saudi Arabia1PathogenicNance-Horan SyndromeKhan et al. 2012; Patel et al. 2017 Nephew of 302350.1.1
302350.1.5Saudi Arabia1PathogenicNance-Horan SyndromeKhan et al. 2012; Patel et al. 2017 Nephew of 302350.1.1
302350.1.6Saudi Arabia1PathogenicNance-Horan SyndromeKhan et al. 2012; Patel et al. 2017 Nephew of 302350.1.1
302350.1.G.1Saudi Arabia4PathogenicNance-Horan SyndromeKhan et al. 2012 4 asymptomatic females with bilateral le...
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