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EPAS1 OVEREXPRESSION
genetic variant
OVEREXPRESSION
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Statements
instance of
sequence variant
1 reference
stated in
CIViC database
retrieved
22 January 2022
reference URL
https://civic.genome.wustl.edu/links/variants/435
chromosome
human chromosome 2
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
22 January 2022
reference URL
https://civic.genome.wustl.edu/links/variants/435
genomic start
46524541
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
22 January 2022
reference URL
https://civic.genome.wustl.edu/links/variants/435
genomic end
46613836
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
22 January 2022
reference URL
https://civic.genome.wustl.edu/links/variants/435
biological variant of
EPAS1
1 reference
stated in
CIViC database
retrieved
22 January 2022
reference URL
https://civic.genome.wustl.edu/links/variants/435
positive therapeutic predictor for
pazopanib
determination method
CIViC evidence level B
rating
CIViC 2-star trust rating
medical condition treated
renal cell carcinoma
statement disputed by
The role of aberrant VHL/HIF pathway elements in predicting clinical outcome to pazopanib therapy in patients with metastatic clear-cell renal cell carcinoma.
1 reference
curator
CIViC database
retrieved
22 January 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1673
stated in
The role of aberrant VHL/HIF pathway elements in predicting clinical outcome to pazopanib therapy in patients with metastatic clear-cell renal cell carcinoma.
negative prognostic predictor for
colorectal cancer
determination method
CIViC evidence level B
rating
CIViC 3-star trust rating
statement disputed by
HIF1A overexpression is associated with poor prognosis in a cohort of 731 colorectal cancers
1 reference
curator
CIViC database
retrieved
22 January 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1033
stated in
HIF1A overexpression is associated with poor prognosis in a cohort of 731 colorectal cancers
Identifiers
CIViC variant ID
435
1 reference
stated in
CIViC database
retrieved
22 January 2022
reference URL
https://civic.genome.wustl.edu/links/variants/435
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