(Q28371040)

English

TP53 R248W

genetic variant

ARG248TRP
R248W
R116W
R209W
RS121912651

In more languages

Statements

missense mutation

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/118

human chromosome 17

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/118

7577539

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/118

7577539

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/118

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/118

negative prognostic predictor for

determination method

CIViC evidence level B

CIViC 3-star trust rating

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/392

The clinical value of somatic TP53 gene mutations in 1,794 patients with breast cancer

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/118

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NM_000546.5:c.742C>T

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/118

NP_000537.3:p.Arg248Trp

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/118

NC_000017.10:g.7577539G>A

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/118

ENST00000269305.4:c.742C>T

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/118

Sitelinks

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Multilingual sites(0 entries)

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