NM_000551.3:c.351G>T

HGVS Expressions

  • NG_008212.3:g.9890G>T
  • NM_000551.3:c.351G>T
  • NP_000542.1:p.Trp117Cys

Associated Genes

VHL Gene
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Genomic Location

chr3:10146524

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

167827

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
193300.2.01Kuwait1PathogenicVon Hippel-Lindau SyndromeAlFadhli et al. 2008
193300.2.02Kuwait1PathogenicVon Hippel-Lindau SyndromeAlFadhli et al. 2008 Daughter of 193300.2.01
193300.2.03Kuwait1PathogenicVon Hippel-Lindau SyndromeAlFadhli et al. 2008 Son of 193300.2.01
193300.2.04Kuwait1PathogenicVon Hippel-Lindau SyndromeAlFadhli et al. 2008 Daughter of 193300.2.01
193300.2.05Kuwait1PathogenicVon Hippel-Lindau SyndromeAlFadhli et al. 2008 Son of 193300.2.01
193300.2.06Kuwait1PathogenicVon Hippel-Lindau SyndromeAlFadhli et al. 2008 Son of 193300.2.01
193300.2.07Kuwait1PathogenicVon Hippel-Lindau SyndromeAlFadhli et al. 2008 Grandson of 193300.2.01
193300.2.08Kuwait1PathogenicVon Hippel-Lindau SyndromeAlFadhli et al. 2008 Grandson of 193300.2.01
193300.2.09Kuwait1PathogenicVon Hippel-Lindau SyndromeAlFadhli et al. 2008 Granddaughter of 193300.2.01
193300.2.10Kuwait1PathogenicVon Hippel-Lindau SyndromeAlFadhli et al. 2008 Granddaughter of 193300.2.01
193300.2.11Kuwait1PathogenicVon Hippel-Lindau SyndromeAlFadhli et al. 2008 Grandson of 193300.2.01
193300.2.12Kuwait1PathogenicVon Hippel-Lindau SyndromeAlFadhli et al. 2008 Granddaughter of 193300.2.01
193300.2.13Kuwait1PathogenicVon Hippel-Lindau SyndromeAlFadhli et al. 2008 Granddaughter of 193300.2.01
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