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(Q28371307)
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SETBP1 G870S
genetic variant
GLY870SER
RS267607040
G870S
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Statements
instance of
missense mutation
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/351
chromosome
human chromosome 18
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/351
genomic start
42531913
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/351
genomic end
42531913
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/351
biological variant of
SETBP1
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/351
negative prognostic predictor for
chronic myeloid leukemia
determination method
CIViC evidence level D
rating
CIViC 3-star trust rating
1 reference
curator
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/840
stated in
Recurrent SETBP1 mutations in atypical chronic myeloid leukemia
Identifiers
CIViC variant ID
351
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/351
dbSNP Reference SNP number
rs267607040
1 reference
stated in
CIViC database
HGVS nomenclature
NM_015559.2:c.2608G>A
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/351
NP_056374.2:p.Gly870Ser
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/351
ENST00000282030.5:c.2608G>A
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/351
NC_000018.9:g.42531913G>A
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/351
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