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(Q28371024)
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PDGFRA D842I
genetic variant
D842I
ASP842ILE
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No label defined
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/98
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/98
genomic start
55152092
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/98
genomic end
55152093
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/98
biological variant of
PDGFRA
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/98
positive therapeutic predictor for
crenolanib
medical condition treated
gastrointestinal stromal tumor
determination method
CIViC evidence level D
rating
CIViC 4-star trust rating
1 reference
curator
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/43
stated in
Crenolanib inhibits the drug-resistant PDGFRA D842V mutation associated with imatinib-resistant gastrointestinal stromal tumors
Identifiers
CIViC variant ID
98
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/98
dbSNP Reference SNP number
rs121913264
1 reference
stated in
CIViC database
HGVS nomenclature
NC_000004.11:g.55152092_55152093delinsAT
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/98
ENST00000257290.5:c.2524_2525delinsAT
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/98
NP_006197.1:p.Asp842Ile
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/98
NM_006206.5:c.2524_2525delGAinsAT
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/98
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