(Q28371582)

English

VHL R200W (c.598C>T)

genetic variant

ARG200TRP
R200W
R200W (c.598C>T)
C.598C>T
RS28940298

In more languages

default for all languages

No label defined

No description defined

Statements

missense mutation

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/631

human chromosome 3

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/631

10191605

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/631

10191605

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/631

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/631

positive therapeutic predictor for

medical condition treated

familial erythrocytosis 2

determination method

CIViC evidence level C

CIViC 4-star trust rating

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/1608

Clinical Improvement with JAK2 Inhibition in Chuvash Polycythemia

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/631

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NM_000551.3:c.598C>T

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/631

NP_000542.1:p.Arg200Trp

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/631

ENST00000256474.2:c.598C>T

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/631

NC_000003.11:g.10191605C>T

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/631

Sitelinks

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Multilingual sites(0 entries)

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