NM_001814.4:c.899G>A

HGVS Expressions

  • NG_007952.1:g.48275G>A
  • NM_001814.4:c.899G>A
  • NP_001805.3:p.Gly300Asp

Associated Genes

Cathepsin C
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Genomic Location

chr11:88294499

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
245000.2.1Saudi Arabia2Likely PathogenicPapillon-Lefevre SyndromeAlkhiary et al. 2016 Proband
245000.2.2Saudi Arabia2Likely PathogenicPapillon-Lefevre SyndromeAlkhiary et al. 2016 Sibling of 245000.2.1
245000.2.3Saudi Arabia2Likely PathogenicPapillon-Lefevre SyndromeAlkhiary et al. 2016 Sibling of 245000.2.1
245000.2.4Saudi Arabia2Likely PathogenicPapillon-Lefevre SyndromeAlkhiary et al. 2016 Sibling of 245000.2.1
245000.2.5Saudi Arabia1Likely PathogenicAlkhiary et al. 2016 Unaffected sibling of 245000.2.1
245000.2.6Saudi Arabia1Likely PathogenicAlkhiary et al. 2016 Unaffected sibling of 245000.2.1
245000.2.7Saudi Arabia1Likely PathogenicAlkhiary et al. 2016 Unaffected father of 245000.2.1
245000.2.8Saudi Arabia1Likely PathogenicAlkhiary et al. 2016 Unaffected mother of 245000.2.1
245000.3.1Saudi Arabia2Likely PathogenicPapillon-Lefevre SyndromeZhang et al. 2001 Proband
245000.G.1Saudi Arabia12Likely PathogenicPapillon-Lefevre SyndromeUllbro et al. 2006 Group of 6 patients
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