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KIT D820G
genetic variant
D820G
ASP820GLY
RS121913682
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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/1266
chromosome
human chromosome 4
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/1266
genomic start
55599333
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/1266
genomic end
55599333
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/1266
biological variant of
KIT
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/1266
negative therapeutic predictor for
imatinib
determination method
CIViC evidence level C
rating
CIViC 3-star trust rating
medical condition treated
gastrointestinal stromal tumor
1 reference
curator
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/2922
stated in
Molecular correlates of imatinib resistance in gastrointestinal stromal tumors.
Identifiers
CIViC variant ID
1266
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/1266
dbSNP Reference SNP number
rs121913682
1 reference
stated in
CIViC database
HGVS nomenclature
NM_000222.2:c.2459A>G
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/1266
NP_000213.1:p.Asp820Gly
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/1266
NC_000004.11:g.55599333A>G
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/1266
ENST00000288135.5:c.2459A>G
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/1266
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