NM_001297764.2:c.497-2del

HGVS Expressions

  • NG_011883.2:g.22375del
  • NM_001297764.2:c.497-2del

Associated Genes

USH1C Gene
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Genomic Location

chr11:17527042

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

5140

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276904.1.1Lebanon2PathogenicUsher Syndrome, Type ICVerpy et al, 2000; Saouda et al. 1998
276904.1.2Lebanon2PathogenicUsher Syndrome, Type ICVerpy et al, 2000 Sister of 276904.1.1
276904.1.3Lebanon2PathogenicUsher Syndrome, Type ICVerpy et al, 2000 Brother of 276904.1.1
276904.1.4Lebanon1PathogenicVerpy et al, 2000 Unaffected father of 276904.1.1
276904.1.5Lebanon1PathogenicVerpy et al, 2000 Unaffected mother of 276904.1.1
276904.1.6Lebanon1PathogenicVerpy et al, 2000 Unaffected brother of 276904.1.1
276904.1.7Lebanon1PathogenicVerpy et al, 2000 Unaffected sister of 276904.1.1
276904.1.8Lebanon1PathogenicVerpy et al, 2000 Unaffected sister of 276904.1.1
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