NM_000551.3:c.194C>G

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  2. 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

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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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Contributors

  • Sayeeda Hana: 21.03.2020

Edit History

  • Sayeeda Hana: 21.03.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.