NM_001814.6:c.1040A>G

HGVS Expressions

  • NG_007952.1:g.48416A>G
  • NM_001814.6:c.1040A>G
  • NP_001805.4:p.Tyr347Cys

Associated Genes

Cathepsin C
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Genomic Location

chr11:88294358

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

7301

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
170650.1.01Jordan2PathogenicPeriodontitis, Aggressive, 1Hart et al. 2000 Proband
170650.1.02Jordan2PathogenicPeriodontitis, Aggressive, 1Hart et al. 2000 Sister of 170650.1.01
170650.1.03Jordan2PathogenicPeriodontitis, Aggressive, 1Hart et al. 2000 Double first cousin of 170650.1.01
170650.1.04Jordan2PathogenicPeriodontitis, Aggressive, 1Hart et al. 2000 Double first cousin of 170650.1.01
170650.1.05Jordan1PathogenicHart et al. 2000 Unaffected father of 170650.1.01
170650.1.06Jordan1PathogenicHart et al. 2000 Unaffected mother of 170650.1.01
170650.1.07Jordan1PathogenicHart et al. 2000 Unaffected father of 170650.1.03 and 170...
170650.1.08Jordan1PathogenicHart et al. 2000 Unaffected mother of 170650.1.03 and 170...
170650.1.09Jordan1PathogenicHart et al. 2000 Unaffected sister of 170650.1.03 and 170...
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