(Q42786703)

English

VHL S80R (c.238A>C)

genetic variant

S80R (c.238A>C)
SER80ARG
C.238A>C
RS786202787

In more languages

default values for all languages

No label defined

No description defined

Statements

missense mutation

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1963

human chromosome 3

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1963

10183769

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1963

10183769

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1963

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1963

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1963

dbSNP Reference SNP number

1 reference

HGVS nomenclature

ENST00000256474.2:c.238A>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1963

NC_000003.11:g.10183769A>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1963

NM_000551.3:c.238A>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1963

NP_000542.1:p.Ser80Arg

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1963

Sitelinks

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