(Q28423265)

English

PMS2 K706FS*19

genetic variant

RS587782704
K706FS*19
LYS706SERFS

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Statements

Minus 1 Frameshift Variant

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/508

human chromosome 7

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/508

6022512

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/508

6022512

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/508

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/508

positive therapeutic predictor for

medical condition treated

determination method

CIViC evidence level C

CIViC 4-star trust rating

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/1214

Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency.

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/508

HGVS nomenclature

NM_000535.6:c.2117delA

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/508

NP_000526.2:p.Lys706Serfs

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/508

NC_000007.13:g.6022512del

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/508

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