NM_020366.3:c.1107del

HGVS Expressions

  • NG_008933.1:g.29486del
  • NM_020366.3:c.1107del
  • NP_065099.3:p.Glu370fs
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Genomic Location

chr14:21312462

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

99809

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613826.3.1Saudi Arabia2PathogenicLeber Congenital Amaurosis 6Khan et al. 2013; Hameed et al, 2003
613826.3.2Saudi Arabia2PathogenicLeber Congenital Amaurosis 6Khan et al. 2013; Hameed et al, 2003 Brother of 613826.3.1
613826.5Saudi Arabia2PathogenicLeber Congenital Amaurosis 6Khan et al. 2013; Hameed et al, 2003
613826.7Saudi Arabia2PathogenicLeber Congenital Amaurosis 6Khan et al. 2013; Hameed et al, 2003
613826.8Saudi Arabia2PathogenicLeber Congenital Amaurosis 6Khan et al. 2013; Hameed et al, 2003
608194.G.1Saudi Arabia8PathogenicCone-Rod Dystrophy 13Patel et al, 2018 4 members of a family
613826.G.1Saudi Arabia4PathogenicLeber Congenital Amaurosis 6Patel et al, 2018 2 members of a family
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