(Q42786643)

English

VHL L169P (c.506T>C)

genetic variant

L169P (c.506T>C)
C.506T>C
LEU169PRO
RS1131690962

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No description defined

Statements

missense mutation

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1887

human chromosome 3

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1887

10191513

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1887

10191513

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1887

biological variant of

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1887

Identifiers

CIViC variant ID

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1887

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NM_000551.3:c.506T>C

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1887

NP_000542.1:p.Leu169Pro

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1887

NC_000003.11:g.10191513T>C

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1887

ENST00000256474.2:c.506T>C

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1887

Sitelinks

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