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NPM1 W288FS
genetic variant
NPM1--A
W288FS
NPM1-A
RS587776806
TRP288FS
In more languages
default values for all languages
No label defined
No description defined
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Statements
instance of
Frameshift Elongation
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/87
chromosome
human chromosome 5
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/87
genomic start
170837547
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/87
genomic end
170837548
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/87
biological variant of
NPM1
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/87
positive therapeutic predictor for
etoposide / cytarabine / daunorubicin combination therapy
determination method
CIViC evidence level E
rating
CIViC 3-star trust rating
medical condition treated
acute myeloid leukemia
1 reference
curator
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/153
stated in
Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype
positive diagnostic predictor for
acute myeloid leukemia
determination method
CIViC evidence level B
rating
CIViC 4-star trust rating
statement disputed by
DNMT3A Mutations in Acute Myeloid Leukemia
1 reference
curator
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/109
stated in
DNMT3A Mutations in Acute Myeloid Leukemia
acute myeloid 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/121
stated in
DNMT3A Mutations in Acute Myeloid Leukemia
Identifiers
CIViC variant ID
87
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/87
HGVS nomenclature
NM_002520.6:c.860_863dupTCTG
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/87
NC_000005.9:g.170837544_170837547dupTCTG
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/87
NP_002511.1:p.Trp288Cysfs
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/87
ENST00000517671.1:c.860_863dupTCTG
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/87
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