(Q28371007)

English

KIT V654A

genetic variant

V654A
RS121913523
VAL654ALA

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/73

human chromosome 4

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/73

55594258

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/73

55594258

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/73

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/73

positive therapeutic predictor for

medical condition treated

gastrointestinal stromal tumor

determination method or standard

CIViC evidence level B

CIViC 3-star trust rating

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/304

Efficacy of the kinase inhibitor SU11248 against gastrointestinal stromal tumor mutants refractory to imatinib mesylate

negative therapeutic predictor for

determination method or standard

CIViC evidence level D

CIViC 3-star trust rating

medical condition treated

gastrointestinal stromal tumor

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/249

Molecular correlates of imatinib resistance in gastrointestinal stromal tumors.

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/73

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NC_000004.11:g.55594258T>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/73

NM_000222.2:c.1961T>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/73

NP_000213.1:p.Val654Ala

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/73

ENST00000288135.5:c.1961T>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/73

Sitelinks

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Multilingual sites(0 entries)

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