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(Q28371003)
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IDH2 R172K
genetic variant
R172K
ARG172LYS
R120K
RS121913503
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No description defined
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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/63
chromosome
human chromosome 15
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/63
genomic start
90631838
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/63
genomic end
90631838
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/63
biological variant of
IDH2
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/63
negative prognostic predictor for
acute myeloid leukemia
determination method or standard
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/375
stated in
The prognostic significance of IDH2 mutations in AML depends on the location of the mutation
Identifiers
CIViC variant ID
63
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/63
dbSNP Reference SNP number
rs121913503
1 reference
stated in
CIViC database
HGVS nomenclature
NC_000015.9:g.90631838C>T
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/63
NM_002168.3:c.515G>A
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/63
NP_002159.2:p.Arg172Lys
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/63
ENST00000330062.3:c.515G>A
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/63
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