(Q29938795)

English

CTNNB1 S45P

genetic variant

S45P
SER45PRO
RS121913407

In more languages

default for all languages

No label defined

No description defined

Statements

missense mutation

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1287

human chromosome 3

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1287

41266136

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1287

41266136

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1287

biological variant of

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1287

positive diagnostic predictor for

aggressive fibromatosis

determination method or standard

CIViC evidence level B

CIViC 3-star trust rating

2 references

23 May 2022

https://civic.genome.wustl.edu/links/evidence/2975

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

23 May 2022

https://civic.genome.wustl.edu/links/evidence/5072

CTNNB1 mutation analysis is a useful tool for the diagnosis of desmoid tumors: a study of 260 desmoid tumors and 191 potential morphologic mimics

positive prognostic predictor for

aggressive fibromatosis

determination method or standard

CIViC evidence level B

CIViC 1-star trust rating

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/3043

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

Identifiers

CIViC variant ID

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1287

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NM_001904.3:c.133T>C

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1287

NP_001895.1:p.Ser45Pro

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1287

NC_000003.11:g.41266136T>C

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1287

ENST00000349496.5:c.133T>C

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1287

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q29938795&oldid=2014806153"