NM_001814.6:c.890-1G>A

HGVS Expressions

  • NG_007952.1:g.48265G>A
  • NM_001814.6:c.890-1G>A

Associated Genes

Cathepsin C
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Genomic Location

chr11:88294509

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

7290

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
245000.4.01Jordan2PathogenicPapillon-Lefevre SyndromeNusier et al. 2002
245000.4.02Jordan2PathogenicPapillon-Lefevre SyndromeNusier et al. 2002 Sister of 245000.4.01
245000.4.03Jordan2PathogenicPapillon-Lefevre SyndromeNusier et al. 2002 Sister of 245000.4.01
245000.4.04Jordan2PathogenicPapillon-Lefevre SyndromeNusier et al. 2002 Sister of 245000.4.01
245000.4.05Jordan2PathogenicPapillon-Lefevre SyndromeNusier et al. 2002 Second cousin of 245000.4.01
245000.4.06Jordan1PathogenicNusier et al. 2002 Unaffected sibling of 245000.4.01
245000.4.07Jordan1PathogenicNusier et al. 2002 Unaffected sibling of 245000.4.01
245000.4.08Jordan1PathogenicNusier et al. 2002 Unaffected sibling of 245000.4.01
245000.4.09Jordan1PathogenicNusier et al. 2002 Unaffected sibling of 245000.4.01
245000.4.10Jordan1PathogenicNusier et al. 2002 Unaffected father of 245000.4.01
245000.4.11Jordan1PathogenicNusier et al. 2002 Unaffected mother of 245000.4.01
245000.4.12Jordan1PathogenicNusier et al. 2002 Unaffected sibling of 245000.4.05
245000.4.13Jordan1PathogenicNusier et al. 2002 Unaffected father of 245000.4.05
245000.4.14Jordan1PathogenicNusier et al. 2002 Unaffected mother of 245000.4.05
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