Global Variome shared LOVD
TP53 (tumor protein p53)
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Curator:
Magali Olivier
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View all transcripts of gene TP53
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View all variants affecting transcripts
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View all variants in gene TP53
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View all diseases associated with gene TP53
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All screenings for gene TP53
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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.
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = singele molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
484 entries on 5 pages. Showing entries 1 - 100.
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How to query
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000003211
00003293
DNA
SEQ-NG-I
-
-
1
Christopher Watson
0000046392
00046287
DNA
SEQ
-
-
1
kConFab - Heather Thorne
0000046393
00046288
DNA
SEQ
-
-
1
kConFab - Heather Thorne
0000046394
00046289
DNA
SEQ
-
-
1
kConFab - Heather Thorne
0000046395
00046290
DNA
SEQ
-
-
1
kConFab - Heather Thorne
0000046396
00046291
DNA
SEQ
-
-
1
kConFab - Heather Thorne
0000046397
00046292
DNA
SEQ
-
-
1
kConFab - Heather Thorne
0000046398
00046293
DNA
SEQ
-
-
1
kConFab - Heather Thorne
0000046399
00046294
DNA
SEQ
-
-
1
kConFab - Heather Thorne
0000046400
00046295
DNA
SEQ
-
-
1
kConFab - Heather Thorne
0000046401
00046296
DNA
SEQ
-
-
1
kConFab - Heather Thorne
0000046425
00046320
DNA
SEQ
-
-
1
kConFab - Heather Thorne
0000047421
00047321
DNA
SEQ
-
-
1
James Whitworth
0000047423
00047322
DNA
DHPLC;SEQ
-
-
2
James Whitworth
0000047429
00047328
DNA
SEQ
-
-
1
James Whitworth
0000047502
00047328
DNA
SEQ
-
-
1
James Whitworth
0000048186
00048061
DNA
SEQ
-
-
2
James Whitworth
0000050073
00050128
DNA
SEQ-NG-I
-
-
1
Andreas Laner
0000074819
00074654
DNA;RNA
RT-PCR;SEQ
blood
-
1
Trinidad Caldes
0000091014
00090869
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000091015
00090870
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000091016
00090871
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000091017
00090872
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000091018
00090873
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000091019
00090874
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000091020
00090875
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000091021
00090876
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000091022
00090877
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000091023
00090878
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000091024
00090879
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000105364
00104891
DNA
SEQ-NG-I
-
-
1
Friederike Hein
0000153588
00152726
DNA
SEQ-NG-I
-
-
2
Andreas Laner
0000154169
00153306
DNA
SEQ-NG-I
-
-
2
Andreas Laner
0000154190
00153326
DNA
SEQ-NG-I
-
-
2
Andreas Laner
0000179456
00178553
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179457
00178554
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179458
00178555
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179459
00178556
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179460
00178557
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179461
00178558
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179462
00178559
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179463
00178560
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179464
00178561
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179465
00178562
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179466
00178563
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179467
00178564
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179468
00178565
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179469
00178566
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179470
00178567
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179471
00178568
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179472
00178569
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179473
00178570
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179474
00178571
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179475
00178572
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179476
00178573
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179477
00178574
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179478
00178575
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179479
00178576
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179480
00178577
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179481
00178578
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179482
00178579
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179483
00178580
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179484
00178581
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179485
00178582
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179486
00178583
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179487
00178584
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179488
00178585
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179489
00178586
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179490
00178587
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179491
00178588
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179492
00178589
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179493
00178590
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179494
00178591
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179495
00178592
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179496
00178593
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179497
00178594
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179498
00178595
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179499
00178596
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179500
00178597
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179501
00178598
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179502
00178599
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179503
00178600
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179504
00178601
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179505
00178602
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179506
00178603
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179507
00178604
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179508
00178605
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179509
00178606
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179510
00178607
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179511
00178608
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179512
00178609
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179513
00178610
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179514
00178611
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179515
00178612
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179516
00178613
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179517
00178614
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179518
00178615
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179519
00178616
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179520
00178617
DNA
SEQ
-
-
1
Yukihide Momozawa
0000179521
00178618
DNA
SEQ
-
-
1
Yukihide Momozawa
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