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KIT V559D
genetic variant
V559D
RS121913517
VAL559ASP
In more languages
default values for all languages
No label defined
No description defined
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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/968
chromosome
human chromosome 4
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/968
genomic start
55593610
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/968
genomic end
55593610
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/968
biological variant of
KIT
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/968
positive therapeutic predictor for
imatinib
medical condition treated
gastrointestinal stromal tumor
determination method
CIViC evidence level C
rating
CIViC 3-star trust rating
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/3028
stated in
Ten Years of Treatment with 400 mg Imatinib per Day in a Case of Advanced Gastrointestinal Stromal Tumor
ponatinib
determination method
CIViC evidence level D
rating
CIViC 2-star trust rating
medical condition treated
gastrointestinal stromal tumor
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/4459
stated in
Ponatinib inhibits polyclonal drug-resistant KIT oncoproteins and shows therapeutic potential in heavily pretreated gastrointestinal stromal tumor (GIST) patients.
imatinib
determination method
CIViC evidence level D
rating
CIViC 2-star trust rating
medical condition treated
gastrointestinal stromal tumor
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/4459
stated in
Ponatinib inhibits polyclonal drug-resistant KIT oncoproteins and shows therapeutic potential in heavily pretreated gastrointestinal stromal tumor (GIST) patients.
regorafenib
determination method
CIViC evidence level D
rating
CIViC 2-star trust rating
medical condition treated
gastrointestinal stromal tumor
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/4459
stated in
Ponatinib inhibits polyclonal drug-resistant KIT oncoproteins and shows therapeutic potential in heavily pretreated gastrointestinal stromal tumor (GIST) patients.
Identifiers
CIViC variant ID
968
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/968
dbSNP Reference SNP number
rs121913517
1 reference
stated in
CIViC database
HGVS nomenclature
NM_000222.2:c.1676T>A
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/968
NP_000213.1:p.Val559Asp
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/968
NC_000004.11:g.55593610T>A
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/968
ENST00000288135.5:c.1676T>A
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/968
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