NM_174878.3:c.301_305del

HGVS Expressions

  • NG_009168.1:g.36286_36290del
  • NM_174878.3:c.301_305del
  • NP_777367.1:p.Val101SerfsTer27
  • NC_000003.12:g.150941712_150941716del

Associated Genes

Clarin 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

48145

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276902.1.1Lebanon2PathogenicUsher Syndrome, Type IIIAAkoury et al, 2011
276902.1.2Lebanon2PathogenicUsher Syndrome, Type IIIAAkoury et al, 2011 Brother of 276902.1.1
276902.1.3Lebanon1PathogenicAkoury et al, 2011 Unaffected maternal grandmother of 27690...
276902.1.4Lebanon1PathogenicAkoury et al, 2011 Unaffected father of 276902.1.1
276902.1.5Lebanon1PathogenicAkoury et al, 2011 Unaffected mother of 276902.1.1
276902.1.6Lebanon1PathogenicAkoury et al, 2011 Unaffected sister of 276902.1.1
276902.1.7Lebanon1PathogenicAkoury et al, 2011 Unaffected sister of 276902.1.1
276902.1.8Lebanon1PathogenicAkoury et al, 2011 Unaffected brother of 276902.1.1
276902.1.9Lebanon1PathogenicAkoury et al, 2011 Unaffected brother of 276902.1.1
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