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(Q28371027)
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PDGFRA D842Y
genetic variant
D842Y
ASP842TYR
RS121913265
In more languages
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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/100
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/100
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/100
genomic end
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/100
biological variant of
PDGFRA
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/100
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/45
stated in
Crenolanib inhibits the drug-resistant PDGFRA D842V mutation associated with imatinib-resistant gastrointestinal stromal tumors
Identifiers
CIViC variant ID
100
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/100
dbSNP Reference SNP number
rs121913265
1 reference
stated in
CIViC database
HGVS nomenclature
ENST00000257290.5:c.2524G>T
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/100
NC_000004.11:g.55152092G>T
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/100
NM_006206.5:c.2524G>T
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/100
NP_006197.1:p.Asp842Tyr
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/100
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