(Q56240930)

English

VHL L188Q (c.563T>A)

genetic variant

L188Q (c.563T>A)
C.563T>A
LEU188GLN

In more languages

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No label defined

No description defined

Statements

missense mutation

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1861

human chromosome 3

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1861

10191570

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1861

10191570

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1861

biological variant of

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1861

Identifiers

CIViC variant ID

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1861

dbSNP Reference SNP number

1 reference

HGVS nomenclature

ENST00000256474.2:c.563T>A

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1861

NC_000003.11:g.10191570T>A

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1861

NM_000551.3:c.563T>A

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1861

NP_000542.1:p.Leu188Gln

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1861

Sitelinks

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