NM_000551.3:c.340+1G>T

HGVS Expressions

  • NG_008212.3:g.5554G>T
  • NM_000551.3:c.340+1G>T

Associated Genes

VHL Gene
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Genomic Location

chr3:10142188

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

223190

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
193300.1.1Kuwait1PathogenicVon Hippel-Lindau SyndromeAlFadhli et al. 2004
193300.1.2Kuwait1PathogenicVon Hippel-Lindau SyndromeAlFadhli et al. 2004 Brother of 193300.1.1
193300.1.3Kuwait1PathogenicVon Hippel-Lindau SyndromeAlFadhli et al. 2004 Brother of 193300.1.1
193300.1.4Kuwait1PathogenicVon Hippel-Lindau SyndromeAlFadhli et al. 2004 Sister of 193300.1.1
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