(Q29938514)

English

ABL1 BCR::ABL Q252H

genetic variant

Q252H
RS121913458
Q271H
BCR-ABL Q252H
BCR-ABL Q271H
BCR-ABL1 Q252H
BCR-ABL1 GLN252HIS
BCR::ABL Q252H

In more languages

default values for all languages

No label defined

No description defined

Statements

missense mutation

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1024

transcript fusion

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1024

human chromosome 9

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1024

133738356

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1024

133738356

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1024

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1024

positive therapeutic predictor for

medical condition treated

chronic myeloid leukemia

determination method

CIViC evidence level D

CIViC 3-star trust rating

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/2650

Activity of bosutinib, dasatinib, and nilotinib against 18 imatinib-resistant BCR/ABL mutants

negative therapeutic predictor for

dasatinib monohydrate

determination method

CIViC evidence level C

CIViC 3-star trust rating

medical condition treated

chronic myeloid leukemia

statement disputed by

Dasatinib treatment of chronic-phase chronic myeloid leukemia: analysis of responses according to preexisting BCR-ABL mutations

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/4327

Dasatinib treatment of chronic-phase chronic myeloid leukemia: analysis of responses according to preexisting BCR-ABL mutations

dasatinib monohydrate

determination method

CIViC evidence level D

CIViC 1-star trust rating

medical condition treated

chronic myeloid leukemia

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/6219

Comparative analysis of two clinically active BCR-ABL kinase inhibitors reveals the role of conformation-specific binding in resistance

imatinib mesylate

determination method

CIViC evidence level D

CIViC 2-star trust rating

medical condition treated

chronic myeloid leukemia

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/6245

Comparison of imatinib mesylate, dasatinib (BMS-354825), and nilotinib (AMN107) in an N-ethyl-N-nitrosourea (ENU)-based mutagenesis screen: high efficacy of drug combinations

dasatinib monohydrate

determination method

CIViC evidence level D

CIViC 2-star trust rating

medical condition treated

chronic myeloid leukemia

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/6274

Comparison of imatinib mesylate, dasatinib (BMS-354825), and nilotinib (AMN107) in an N-ethyl-N-nitrosourea (ENU)-based mutagenesis screen: high efficacy of drug combinations

determination method

CIViC evidence level D

CIViC 2-star trust rating

medical condition treated

chronic myeloid leukemia

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/4323

Axitinib effectively inhibits BCR-ABL1(T315I) with a distinct binding conformation

determination method

CIViC evidence level C

CIViC 3-star trust rating

medical condition treated

chronic myeloid leukemia

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/2651

Detection of BCR-ABL mutations in patients with CML treated with imatinib is virtually always accompanied by clinical resistance, and mutations in the ATP phosphate-binding loop (P-loop) are associated with a poor prognosis

dasatinib monohydrate

determination method

CIViC evidence level D

CIViC 3-star trust rating

medical condition treated

statement disputed by

Comparison of imatinib, dasatinib, nilotinib and INNO-406 in imatinib-resistant cell lines

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/2653

Comparison of imatinib, dasatinib, nilotinib and INNO-406 in imatinib-resistant cell lines

determination method

CIViC evidence level D

CIViC 3-star trust rating

medical condition treated

statement disputed by

Comparison of imatinib, dasatinib, nilotinib and INNO-406 in imatinib-resistant cell lines

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/2653

Comparison of imatinib, dasatinib, nilotinib and INNO-406 in imatinib-resistant cell lines

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1024

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NM_005157.5:c.756G>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1024

NP_005148.2:p.Gln252His

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1024

NC_000009.11:g.133738356G>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1024

ENST00000318560.5:c.756G>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1024

Sitelinks

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Multilingual sites(0 entries)

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