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(Q28371039)
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TP53 R248Q
genetic variant
ARG248GLN
R248Q
R116Q
R209Q
RS11540652
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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/117
chromosome
human chromosome 17
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/117
genomic start
7577538
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/117
genomic end
7577538
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/117
biological variant of
TP53
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/117
negative prognostic predictor for
breast cancer
determination method
CIViC evidence level B
rating
CIViC 3-star trust rating
2 references
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/390
stated in
The clinical value of somatic TP53 gene mutations in 1,794 patients with breast cancer
curator
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/391
stated in
Mutations in residues of TP53 that directly contact DNA predict poor outcome in human primary breast cancer
Identifiers
CIViC variant ID
117
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/117
dbSNP Reference SNP number
rs11540652
1 reference
stated in
CIViC database
HGVS nomenclature
NM_000546.5:c.743G>A
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/117
NP_000537.3:p.Arg248Gln
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/117
NC_000017.10:g.7577538C>T
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/117
ENST00000269305.4:c.743G>A
1 reference
stated in
CIViC database
retrieved
23 May 2022
reference URL
https://civic.genome.wustl.edu/links/variants/117
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