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TERT C228T
genetic variant
C228T
-124C>T
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Statements
instance of
Regulatory Region Variant
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/248
chromosome
human chromosome 5
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/248
genomic start
1295228
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/248
genomic end
1295228
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/248
biological variant of
TERT
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/248
positive diagnostic predictor for
thyroid cancer
determination method
CIViC evidence level B
rating
CIViC 3-star trust rating
1 reference
curator
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/1646
stated in
Diagnostic and prognostic TERT promoter mutations in thyroid fine-needle aspiration biopsy.
negative prognostic predictor for
papillary thyroid cancer
determination method
CIViC evidence level B
rating
CIViC 5-star trust rating
1 reference
curator
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/655
stated in
BRAF V600E and TERT promoter mutations cooperatively identify the most aggressive papillary thyroid cancer with highest recurrence
Identifiers
CIViC variant ID
248
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/248
dbSNP Reference SNP number
rs1242535815
1 reference
stated in
CIViC database
HGVS nomenclature
NC_000005.9:g.1295228G>A
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/248
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