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CTNNB1 S45F
genetic variant
S45F
RS121913409
SER45PHE
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Statements
instance of
missense mutation
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/1286
chromosome
human chromosome 3
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/1286
genomic start
41266137
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/1286
genomic end
41266137
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/1286
biological variant of
CTNNB1
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/1286
positive diagnostic predictor for
aggressive fibromatosis
determination method
CIViC evidence level B
rating
CIViC 4-star trust rating
2 references
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/2974
stated in
Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors.
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/5071
stated in
CTNNB1 mutation analysis is a useful tool for the diagnosis of desmoid tumors: a study of 260 desmoid tumors and 191 potential morphologic mimics
negative prognostic predictor for
aggressive fibromatosis
determination method
CIViC evidence level B
rating
CIViC 3-star trust rating
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/2976
stated in
Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors.
aggressive fibromatosis
determination method
CIViC evidence level B
rating
CIViC 4-star trust rating
1 reference
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/9788
stated in
Prognostic value of CTNNB1 gene mutation in primary sporadic aggressive fibromatosis
Identifiers
CIViC variant ID
1286
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/1286
dbSNP Reference SNP number
rs121913409
1 reference
stated in
CIViC database
HGVS nomenclature
NM_001904.3:c.134C>T
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/1286
NP_001895.1:p.Ser45Phe
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/1286
NC_000003.11:g.41266137C>T
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/1286
ENST00000349496.5:c.134C>T
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/1286
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