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NOTCH1 P2514FS
genetic variant
P2514FS
PRO2514ARGFS
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Statements
instance of
Frameshift Truncation
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/207
chromosome
human chromosome 9
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/207
genomic start
139390649
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/207
genomic end
139390650
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/207
biological variant of
NOTCH1
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/207
negative prognostic predictor for
chronic lymphocytic leukemia
determination method
CIViC evidence level B
rating
CIViC 3-star trust rating
1 reference
curator
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/495
stated in
Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation
chronic lymphocytic leukemia
determination method
CIViC evidence level B
rating
CIViC 4-star trust rating
1 reference
curator
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1014
stated in
Mutations of NOTCH1 are an independent predictor of survival in chronic lymphocytic leukemia
Identifiers
CIViC variant ID
207
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/207
HGVS nomenclature
NC_000009.11:g.139390649_139390650del
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/207
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