(Q29938670)

English

ATM K293*

genetic variant

K293X
K293*
LYS293TER
RS1057516442

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No label defined

No description defined

Statements

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/variants/1155

human chromosome 11

genomic assembly

Genome assembly GRCh37

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/variants/1155

108115729

genomic assembly

Genome assembly GRCh37

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/variants/1155

108115729

genomic assembly

Genome assembly GRCh37

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/variants/1155

biological variant of

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/variants/1155

negative therapeutic predictor for

determination method

CIViC evidence level D

CIViC 3-star trust rating

medical condition treated

chronic lymphocytic leukemia

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/evidence/2832

ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin.

Identifiers

CIViC variant ID

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/variants/1155

dbSNP Reference SNP number

1 reference

HGVS nomenclature

ENST00000278616.4:c.877A>T

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/variants/1155

NM_000051.3:c.877A>T

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/variants/1155

NP_000042.3:p.Lys293Ter

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/variants/1155

NC_000011.9:g.108115729A>T

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/variants/1155

Sitelinks

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Wiktionary(0 entries)

Multilingual sites(0 entries)

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