(Q32948491)

English

EGFR A289V

genetic variant

A289V
RS149840192
ALA289VAL

In more languages

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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/996

human chromosome 7

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/996

55221822

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/996

55221822

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/996

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/996

positive therapeutic predictor for

medical condition treated

determination method or standard

CIViC evidence level D

CIViC 3-star trust rating

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/4188

Epidermal growth factor receptor activation in glioblastoma through novel missense mutations in the extracellular domain

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/996

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NM_005228.4:c.866C>T

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/996

NP_005219.2:p.Ala289Val

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/996

NC_000007.13:g.55221822C>T

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/996

ENST00000275493.2:c.866C>T

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/996

Sitelinks

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