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(Q28371202)
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NT5C2 K359Q
genetic variant
K359Q
LYS359GLN
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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/239
chromosome
human chromosome 10
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/239
genomic start
104852980
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/239
genomic end
104852980
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/239
biological variant of
NT5C2
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/239
negative therapeutic predictor for
6-thioguanine
determination method
CIViC evidence level D
rating
CIViC 4-star trust rating
medical condition treated
acute T cell leukemia
1 reference
curator
CIViC database
retrieved
22 August 2019
reference URL
https://civic.genome.wustl.edu/links/evidence/631
stated in
Activating mutations in the NT5C2 nucleotidase gene drive chemotherapy resistance in relapsed ALL.
mercaptopurine
determination method
CIViC evidence level D
rating
CIViC 4-star trust rating
medical condition treated
acute T cell leukemia
1 reference
curator
CIViC database
retrieved
22 August 2019
reference URL
https://civic.genome.wustl.edu/links/evidence/631
stated in
Activating mutations in the NT5C2 nucleotidase gene drive chemotherapy resistance in relapsed ALL.
negative prognostic predictor for
acute 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/667
stated in
Activating mutations in the NT5C2 nucleotidase gene drive chemotherapy resistance in relapsed ALL.
Identifiers
CIViC variant ID
239
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/239
dbSNP Reference SNP number
rs1057519867
1 reference
stated in
CIViC database
HGVS nomenclature
NC_000010.10:g.104852980T>G
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/239
NM_012229.4:c.1075A>C
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/239
NP_036361.1:p.Lys359Gln
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/239
ENST00000343289.5:c.1075A>C
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/239
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