(Q29938690)

English

ATM K468FS

genetic variant

K468FS
LYS468GLUFS

In more languages

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No label defined

No description defined

Statements

Frameshift Variant

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/variants/1166

human chromosome 11

genomic assembly

Genome assembly GRCh37

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/variants/1166

108121594

genomic assembly

Genome assembly GRCh37

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/variants/1166

108121595

genomic assembly

Genome assembly GRCh37

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/variants/1166

biological variant of

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/variants/1166

negative therapeutic predictor for

determination method or standard

CIViC evidence level D

CIViC 2-star trust rating

medical condition treated

chronic lymphocytic leukemia

statement disputed by

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

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/evidence/2843

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/1166

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NM_000051.3:c.1402_1403delAA

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/variants/1166

NP_000042.3:p.Lys468Glufs

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/variants/1166

NC_000011.9:g.108121594_108121595delAA

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/variants/1166

ENST00000278616.4:c.1402_1403delAA

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/variants/1166

NC_000011.9:g.108121594_108121595del

1 reference

22 January 2022

https://civic.genome.wustl.edu/links/variants/1166

Sitelinks

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Wiktionary(0 entries)

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