NM_174878.3:c.254-649T>G

HGVS Expressions

  • NG_009168.1:g.35590T>G
  • NM_174878.3:c.254-649T>G
  • NC_000003.12:g.150942410A>C

Associated Genes

Clarin 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

834124

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276902.2.1Saudi Arabia2PathogenicUsher Syndrome, Type IIIAKhan et al. 2017
276902.2.2Saudi Arabia2PathogenicUsher Syndrome, Type IIIAKhan et al. 2017 Brother of 276902.2.1
276902.2.3Saudi Arabia2PathogenicUsher Syndrome, Type IIIAKhan et al. 2017 Sister of 276902.2.1
276902.2.4Saudi Arabia2PathogenicUsher Syndrome, Type IIIAKhan et al. 2017 Sister of 276902.2.1
276902.2.5Saudi Arabia1PathogenicKhan et al. 2017 Unaffected father of 276902.2.1
276902.2.6Saudi Arabia1PathogenicKhan et al. 2017 Unaffected mother of 276902.2.1
276902.3.1Saudi Arabia2PathogenicUsher Syndrome, Type IIIAKhan et al. 2017
276902.4.1Saudi Arabia2PathogenicUsher Syndrome, Type IIIAKhan et al. 2017
276902.G.1Saudi Arabia4PathogenicUsher Syndrome, Type IIIAPatel et al, 2018 2 family members
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