(Q29938794)

English

CTNNB1 S45F

genetic variant

S45F
RS121913409
SER45PHE

In more languages

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No label defined

No description defined

Statements

missense mutation

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1286

human chromosome 3

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1286

41266137

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1286

41266137

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1286

biological variant of

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1286

negative prognostic predictor for

aggressive fibromatosis

determination method

CIViC evidence level B

CIViC 3-star trust rating

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/2976

Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors.

aggressive fibromatosis

determination method

CIViC evidence level B

CIViC 4-star trust rating

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/9788

Prognostic value of CTNNB1 gene mutation in primary sporadic aggressive fibromatosis

Identifiers

CIViC variant ID

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1286

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NM_001904.3:c.134C>T

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1286

NP_001895.1:p.Ser45Phe

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1286

NC_000003.11:g.41266137C>T

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1286

ENST00000349496.5:c.134C>T

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1286

Sitelinks

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