(Q47490833)

English

VHL L188R (c.563T>G)

genetic variant

L188R (c.563T>G)
C.563T>G
LEU188ARG

In more languages

default values for all languages

No label defined

No description defined

Statements

missense mutation

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1924

human chromosome 3

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1924

10191570

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1924

10191570

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1924

biological variant of

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1924

Identifiers

CIViC variant ID

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1924

dbSNP Reference SNP number

1 reference

HGVS nomenclature

ENST00000256474.2:c.563T>G

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1924

NC_000003.11:g.10191570T>G

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1924

NM_000551.3:c.563T>G

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1924

NP_000542.1:p.Leu188Arg

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1924

Sitelinks

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Multilingual sites(0 entries)

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