(Q29938447)

English

KIT V560D

genetic variant

V560D
RS121913521
VAL560ASP

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/971

human chromosome 4

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/971

55593613

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/971

55593613

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/971

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/971

positive therapeutic predictor for

determination method

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/4127

Ponatinib inhibits polyclonal drug-resistant KIT oncoproteins and shows therapeutic potential in heavily pretreated gastrointestinal stromal tumor (GIST) patients.

determination method

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/4127

Ponatinib inhibits polyclonal drug-resistant KIT oncoproteins and shows therapeutic potential in heavily pretreated gastrointestinal stromal tumor (GIST) patients.

determination method

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/4127

Ponatinib inhibits polyclonal drug-resistant KIT oncoproteins and shows therapeutic potential in heavily pretreated gastrointestinal stromal tumor (GIST) patients.

determination method

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/4127

Ponatinib inhibits polyclonal drug-resistant KIT oncoproteins and shows therapeutic potential in heavily pretreated gastrointestinal stromal tumor (GIST) patients.

imatinib mesylate

determination method

CIViC evidence level D

CIViC 2-star trust rating

medical condition treated

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/5348

Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor

negative therapeutic predictor for

determination method

CIViC evidence level D

CIViC 2-star trust rating

medical condition treated

statement disputed by

Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/4077

Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor

determination method

CIViC evidence level C

CIViC 3-star trust rating

medical condition treated

gastrointestinal stromal tumor

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/4122

Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/971

dbSNP Reference SNP number

1 reference

HGVS nomenclature

ENST00000288135.5:c.1679T>A

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/971

NM_000222.2:c.1679T>A

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/971

NP_000213.1:p.Val560Asp

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/971

NC_000004.11:g.55593613T>A

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/971

Sitelinks

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Multilingual sites(0 entries)

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