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(Q28371512)
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ALK ALK Fusion G1269A
genetic variant
ALK FUSION G1269A
ALK FUSION GLY1269ALA
RS1057519781
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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
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/552
transcript fusion
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/552
chromosome
human chromosome 2
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/552
genomic start
29432682
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/552
genomic end
29432682
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/552
biological variant of
ALK
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/552
positive therapeutic predictor for
ceritinib
medical condition treated
non-small-cell lung carcinoma
determination method
CIViC evidence level D
rating
CIViC 3-star trust rating
1 reference
curator
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1342
stated in
The ALK Inhibitor Ceritinib Overcomes Crizotinib Resistance in Non-Small Cell Lung Cancer
ceritinib
medical condition treated
cancer
determination method
CIViC evidence level D
rating
CIViC 2-star trust rating
1 reference
curator
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1355
stated in
Activity of second-generation ALK inhibitors against crizotinib-resistant mutants in an NPM-ALK model compared to EML4-ALK.
AP-26113
medical condition treated
cancer
determination method
CIViC evidence level D
rating
CIViC 2-star trust rating
1 reference
curator
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1353
stated in
Activity of second-generation ALK inhibitors against crizotinib-resistant mutants in an NPM-ALK model compared to EML4-ALK.
negative therapeutic predictor for
alectinib
determination method
CIViC evidence level D
rating
CIViC 3-star trust rating
medical condition treated
cancer
1 reference
curator
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1354
stated in
Activity of second-generation ALK inhibitors against crizotinib-resistant mutants in an NPM-ALK model compared to EML4-ALK.
Identifiers
CIViC variant ID
552
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/552
dbSNP Reference SNP number
rs1057519781
1 reference
stated in
CIViC database
HGVS nomenclature
ENST00000389048.3:c.3806G>C
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/552
NC_000002.11:g.29432682C>G
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/552
NM_004304.4:c.3806G>C
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/552
NP_004295.2:p.Gly1269Ala
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/552
Sitelinks
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Wiktionary
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Multilingual sites
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