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(Q28371046)
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U2AF1 Q157P/R
genetic variant
Q157P/R
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Statements
instance of
missense mutation
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/127
chromosome
human chromosome 21
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/127
genomic start
44514777
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/127
genomic end
44514777
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/127
biological variant of
U2AF1
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/127
positive diagnostic predictor for
acute myeloid leukemia
determination method
CIViC evidence level B
rating
CIViC 3-star trust rating
statement disputed by
U2AF1 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/217
stated in
U2AF1 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome
negative prognostic predictor for
myelodysplastic syndrome
determination method
CIViC evidence level B
rating
CIViC 3-star trust rating
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/400
stated in
Clinical implications of U2AF1 mutation in patients with myelodysplastic syndrome and its stability during disease progression.
Identifiers
CIViC variant ID
127
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/127
dbSNP Reference SNP number
rs371246226
1 reference
stated in
CIViC database
HGVS nomenclature
NC_000021.8:g.44514777T>G
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/127
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