(Q28531481)

English

KIT D816V

genetic variant

ASP816VAL
D816V
RS121913507

In more languages

Statements

missense mutation

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/65

human chromosome 4

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/65

55599321

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/65

55599321

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/65

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/65

positive therapeutic predictor for

determination method

CIViC evidence level B

CIViC 4-star trust rating

medical condition treated

systemic mastocytosis

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/1725

Efficacy and Safety of Midostaurin in Advanced Systemic Mastocytosis

negative therapeutic predictor for

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/2451

Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor

dasatinib monohydrate

determination method

CIViC evidence level C

CIViC 2-star trust rating

medical condition treated

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/7465

Characterization of S628N: a novel KIT mutation found in a metastatic melanoma.

determination method

CIViC evidence level C

CIViC 2-star trust rating

medical condition treated

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/7465

Characterization of S628N: a novel KIT mutation found in a metastatic melanoma.

negative prognostic predictor for

acute myeloid leukemia

determination method

CIViC evidence level B

CIViC 4-star trust rating

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/26

Prognostic impact of c-KIT mutations in core binding factor leukemias: an Italian retrospective study

systemic mastocytosis

determination method

CIViC evidence level B

CIViC 4-star trust rating

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/1726

Additional mutations in SRSF2, ASXL1 and/or RUNX1 identify a high-risk group of patients with KIT D816V(+) advanced systemic mastocytosis

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/65

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NM_000222.2:c.2447A>T

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/65

NP_000213.1:p.Asp816Val

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/65

ENST00000288135.5:c.2447A>T

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/65

NC_000004.11:g.55599321A>T

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/65

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