NM_000551.3:c.194C>G

HGVS Expressions

  • NG_008212.3:g.5407C>G
  • NM_000551.3:c.194C>G
  • NP_000542.1:p.Ser65Trp

Associated Genes

VHL Gene
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Genomic Location

chr3:10142041

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

5030826

Clinvar

43597

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
193300.3.1Lebanon1PathogenicVon Hippel-Lindau SyndromeMedlej-Hashim et al. 2004
193300.3.2Lebanon1PathogenicVon Hippel-Lindau SyndromeMedlej-Hashim et al. 2004 Father of 193300.3.1
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