NOTCH1 P2514FS (Q28381497)

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genetic variant

P2514FS
PRO2514ARGFS

Language	Label	Description	Also known as
English	NOTCH1 P2514FS	genetic variant	P2514FS PRO2514ARGFS

Statements

Frameshift Truncation

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/207

human chromosome 9

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/207

139390649

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/207

139390650

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/207

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/207

negative prognostic predictor for

chronic lymphocytic leukemia

determination method

CIViC evidence level B

CIViC 3-star trust rating

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/495

Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation

chronic lymphocytic leukemia

determination method

CIViC evidence level B

CIViC 4-star trust rating

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/1014

Mutations of NOTCH1 are an independent predictor of survival in chronic lymphocytic leukemia

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/207

HGVS nomenclature

NC_000009.11:g.139390649_139390650del

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/207

Sitelinks

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