(Q32965774)

English

VHL S80I (c.239G>T)

genetic variant

S80I (c.239G>T)
SER80ILE
C.239G>T
RS5030805

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No label defined

No description defined

Statements

missense mutation

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1757

human chromosome 3

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1757

10183770

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1757

10183770

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1757

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1757

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1757

dbSNP Reference SNP number

1 reference

HGVS nomenclature

ENST00000256474.2:c.239G>T

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1757

NM_000551.3:c.239G>T

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1757

NP_000542.1:p.Ser80Ile

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1757

NC_000003.11:g.10183770G>T

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1757

Sitelinks

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