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CanVaS - A Greek Cancer Patient Genetic Variation Resource
TP53 (tumor protein p53)
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Curator:
Despoina Kalfakakou
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View all transcripts of gene TP53
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View all diseases associated with gene TP53
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All transcript variants in gene TP53
The variants shown are described using the
NM_000546.5
NM_001276760.1
NM_001126112.2
NM_001276761.1
NM_001126114.2
NM_001276696.1
NM_001126113.2
NM_001276695.1
NM_001126115.1
NM_001276697.1
NM_001126116.1
NM_001276698.1
NM_001126117.1
NM_001276699.1
NM_001126118.1
transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the protein's function, in the format 'R/C' where R is the value reported by the source and C is the value concluded by the curator; '+' indicating the variant affects function, '+?' probably affects function, '+*' affects function, not associated with individual's disease phenotype, '#' affects function, not associated with any known disease phenotype, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect not classified.
Exon
: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA)
: Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
RNA change
: Description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: Description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
DNA change (genomic) (hg19)
: Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).
g.12345678C>T
g.12345678_12345890del
g.12345678_12345890dup
Reference
: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".
DB-ID
: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.
dbSNP ID
: The dbSNP ID.
Variant remarks
: Remarks regarding the variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Genetic origin
: Origin of variant; unknown, germline, somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) when tested for functional consequences.
All options:
Unknown
Germline
Somatic
De novo
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
In vitro (cloned)
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = Unknown
yes = Segregates with phenotype
no = Does not segregate with phenotype
Also Known As
: Non-HGVS names of the variant. (Useful for LGRs)
Geographic Origin (for founder variants)
: Where is the founder variant located?
Is Greek Founder
: Is the variant a Greek Founder Mutation?
All options:
Yes
No
N/A
17 entries on 1 page. Showing entries 1 - 17.
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Legend
Effect
Exon
DNA change (cDNA)
RNA change
Protein
DNA change (genomic) (hg19)
Reference
DB-ID
dbSNP ID
Variant remarks
Genetic origin
Segregation
Also Known As
Geographic Origin (for founder variants)
Is Greek Founder
Owner
+?/+?
-
c.847C>T
r.(?)
p.(Arg283Cys)
g.7577091G>A
Fostira et al (2020)
,
Kato et al (2003)
,
Monti et al (2011)
,
Evans et al (2019)
,
Jagosova et al (2012)
TP53_000001
rs149633775
Low-risk allele
Germline
-
-
-
-
Despoina Kalfakakou
+?/+?
-
c.847C>T
r.(?)
p.(Arg283Cys)
g.7577091G>A
Fostira et al (2020)
,
Kato et al (2003)
,
Monti et al (2011)
,
Evans et al (2019)
,
Jagosova et al (2012)
TP53_000001
rs149633775
Low-risk allele
Germline
-
-
-
-
Despoina Kalfakakou
+?/+?
-
c.847C>T
r.(?)
p.(Arg283Cys)
g.7577091G>A
Fostira et al (2020)
,
Kato et al (2003)
,
Monti et al (2011)
,
Evans et al (2019)
,
Jagosova et al (2012)
TP53_000001
rs149633775
Low-risk allele
Germline
?
-
-
-
Despoina Kalfakakou
+?/+?
-
c.847C>T
r.(?)
p.(Arg283Cys)
g.7577091G>A
Fostira et al (2020)
,
Kato et al (2003)
,
Monti et al (2011)
,
Evans et al (2019)
,
Jagosova et al (2012)
TP53_000001
rs149633775
Low-risk allele
Germline
-
-
-
-
Despoina Kalfakakou
+?/+?
-
c.847C>T
r.(?)
p.(Arg283Cys)
g.7577091G>A
Fostira et al (2020)
,
Kato et al (2003)
,
Monti et al (2011)
,
Evans et al (2019)
,
Jagosova et al (2012)
TP53_000001
rs149633775
Low-risk allele
Germline
?
-
-
-
Despoina Kalfakakou
+?/+?
-
c.847C>T
r.(?)
p.(Arg283Cys)
g.7577091G>A
Fostira et al (2020)
,
Kato et al (2003)
,
Monti et al (2011)
,
Evans et al (2019)
,
Jagosova et al (2012)
TP53_000001
rs149633775
Low-risk allele
Germline
?
-
-
-
Despoina Kalfakakou
+?/+?
-
c.847C>T
r.(?)
p.(Arg283Cys)
g.7577091G>A
Fostira et al (2020)
,
Kato et al (2003)
,
Monti et al (2011)
,
Evans et al (2019)
,
Jagosova et al (2012)
TP53_000001
rs149633775
Low-risk allele
Germline
?
-
-
-
Despoina Kalfakakou
+?/+?
-
c.847C>T
r.(?)
p.(Arg283Cys)
g.7577091G>A
Fostira et al (2020)
,
Kato et al (2003)
,
Monti et al (2011)
,
Evans et al (2019)
,
Jagosova et al (2012)
TP53_000001
rs149633775
Low-risk allele
Germline
?
-
-
-
Despoina Kalfakakou
+?/+?
-
c.847C>T
r.(?)
p.(Arg283Cys)
g.7577091G>A
Fostira et al (2020)
,
Kato et al (2003)
,
Monti et al (2011)
,
Evans et al (2019)
,
Jagosova et al (2012)
TP53_000001
rs149633775
Low-risk allele
Germline
?
-
-
-
Despoina Kalfakakou
+?/+?
-
c.847C>T
r.(?)
p.(Arg283Cys)
g.7577091G>A
Fostira et al (2020)
,
Kato et al (2003)
,
Monti et al (2011)
,
Evans et al (2019)
,
Jagosova et al (2012)
TP53_000001
rs149633775
Low-risk allele
Germline
?
-
-
-
Despoina Kalfakakou
+?/+?
-
c.847C>T
r.(?)
p.(Arg283Cys)
g.7577091G>A
Fostira et al (2020)
,
Kato et al (2003)
,
Monti et al (2011)
,
Evans et al (2019)
,
Jagosova et al (2012)
TP53_000001
rs149633775
Low-risk allele
Germline
?
-
-
-
Despoina Kalfakakou
+?/+?
-
c.847C>T
r.(?)
p.(Arg283Cys)
g.7577091G>A
Fostira et al (2020)
,
Kato et al (2003)
,
Monti et al (2011)
,
Evans et al (2019)
,
Jagosova et al (2012)
TP53_000001
rs149633775
Low-risk allele
Germline
?
-
-
-
Despoina Kalfakakou
+?/+?
-
c.847C>T
r.(?)
p.(Arg283Cys)
g.7577091G>A
Fostira et al (2020)
,
Kato et al (2003)
,
Monti et al (2011)
,
Evans et al (2019)
,
Jagosova et al (2012)
TP53_000001
rs149633775
Low-risk allele
Germline
?
-
-
-
Despoina Kalfakakou
+?/+?
-
c.847C>T
r.(?)
p.(Arg283Cys)
g.7577091G>A
Fostira et al (2020)
,
Kato et al (2003)
,
Monti et al (2011)
,
Evans et al (2019)
,
Jagosova et al (2012)
TP53_000001
rs149633775
Low-risk allele
Germline
-
-
-
-
Despoina Kalfakakou
+?/+?
-
c.847C>T
r.(?)
p.(Arg283Cys)
g.7577091G>A
Fostira et al (2020)
,
Kato et al (2003)
,
Monti et al (2011)
,
Evans et al (2019)
,
Jagosova et al (2012)
TP53_000001
rs149633775
Low-risk allele
Germline
-
-
-
-
Despoina Kalfakakou
+?/+?
-
c.847C>T
r.(?)
p.(Arg283Cys)
g.7577091G>A
Fostira et al (2020)
,
Kato et al (2003)
,
Monti et al (2011)
,
Evans et al (2019)
,
Jagosova et al (2012)
TP53_000001
rs149633775
Low-risk allele
Germline
-
-
-
-
Despoina Kalfakakou
+?/+?
-
c.847C>T
r.(?)
p.(Arg283Cys)
g.7577091G>A
Fostira et al (2020)
,
Kato et al (2003)
,
Monti et al (2011)
,
Evans et al (2019)
,
Jagosova et al (2012)
TP53_000001
rs149633775
Low-risk allele
Germline
-
-
-
-
Despoina Kalfakakou
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