NM_000551.3:c.227T>G

HGVS Expressions

  • NG_008212.3:g.5440T>G
  • NM_000551.3:c.227T>G
  • NP_000542.1:p.Phe76Cys
  • NC_000003.12:g.10142074T>G

Associated Genes

VHL Gene
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

496051

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
193300.4.1Lebanon1PathogenicVon Hippel-Lindau SyndromeMedlej-Hashim et al. 2004
193300.4.2Lebanon1PathogenicVon Hippel-Lindau SyndromeMedlej-Hashim et al. 2004 Son of 193300.4.1
193300.4.3Lebanon1PathogenicVon Hippel-Lindau SyndromeMedlej-Hashim et al. 2004 Mother of 193300.4.1
193300.4.4Lebanon1PathogenicVon Hippel-Lindau SyndromeMedlej-Hashim et al. 2004 Brother of 193300.4.1
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