TERT C228T (Q28382166)

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genetic variant

C228T
-124C>T

Language	Label	Description	Also known as
English	TERT C228T	genetic variant	C228T -124C>T

Statements

Regulatory Region Variant

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/248

human chromosome 5

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/248

1295228

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/248

1295228

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/248

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/248

positive diagnostic predictor for

determination method

CIViC evidence level B

CIViC 3-star trust rating

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/1646

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

CIViC 5-star trust rating

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/655

BRAF V600E and TERT promoter mutations cooperatively identify the most aggressive papillary thyroid cancer with highest recurrence

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/248

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NC_000005.9:g.1295228G>A

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/248

Sitelinks

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