Global Variome shared LOVD
CDKN2A (cyclin-dependent kinase inhibitor 2A)
LOVD v.3.0 Build 28d [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Nienke van der Stoep
View all genes
View CDKN2A gene homepage
View graphs about the CDKN2A gene database
Create a new gene entry
View all transcripts
View all transcripts of gene CDKN2A
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene CDKN2A
View all variants in gene CDKN2A
Full data view for gene CDKN2A
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene CDKN2A
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene CDKN2A
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene CDKN2A
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
All screenings for gene CDKN2A
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.
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-RNA = next-generation sequencing RNA
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
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
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.
450 entries on 5 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
« First
Prev
1
2
3
4
5
Next
Last »
Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000047420
00047320
DNA
SEQ
-
-
1
James Whitworth
0000090653
00090508
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090654
00090509
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090655
00090510
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090656
00090511
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090657
00090512
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090658
00090513
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090659
00090514
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090660
00090515
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090661
00090516
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090662
00090517
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090663
00090518
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090664
00090519
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090665
00090520
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000090666
00090521
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000091027
00090882
DNA
SEQ-NG-I
blood
-
1
Melissa DeRycke
0000111665
00111200
DNA
SEQ
-
-
1
Carli Tops
0000111666
00111284
DNA
MLPA
-
-
1
Janneke Weiss
0000111667
00111295
DNA
SEQ
-
-
1
Johan den Dunnen
0000111668
00111306
DNA
SEQ
-
-
1
Johan den Dunnen
0000111669
00111317
DNA
SEQ
-
-
1
Johan den Dunnen
0000111670
00111328
DNA
SEQ
-
-
1
Janneke Weiss
0000111671
00111339
DNA
SEQ
-
-
1
Janneke Weiss
0000111672
00111350
DNA
SEQ
-
-
1
Johan den Dunnen
0000111673
00111361
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000111674
00111201
DNA
SEQ
-
-
1
Johan den Dunnen
0000111675
00111212
DNA
SEQ
-
-
1
Johan den Dunnen
0000111676
00111223
DNA
SEQ
-
-
1
Janneke Weiss
0000111677
00111234
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000111678
00111245
DNA
SEQ
-
-
1
Johan den Dunnen
0000111679
00111256
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000111680
00111267
DNA
PCR;SSCA;SEQ
-
-
1
Johan den Dunnen
0000111681
00111278
DNA
SEQ
-
-
1
Johan den Dunnen
0000111682
00111282
DNA
PCR;SSCA;SEQ
-
-
1
Johan den Dunnen
0000111683
00111283
DNA
SEQ
-
-
1
Johan den Dunnen
0000111684
00111285
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000111685
00111286
DNA
SEQ
-
-
1
Johan den Dunnen
0000111686
00111287
DNA
PCR;SSCA;SEQ
-
-
1
Johan den Dunnen
0000111687
00111288
DNA
SEQ
-
-
1
Johan den Dunnen
0000111688
00111289
DNA
SEQ
-
-
1
Johan den Dunnen
0000111689
00111290
DNA
SEQ
-
-
1
Johan den Dunnen
0000111690
00111291
DNA
PCR;SSCA;SEQ
-
-
1
Johan den Dunnen
0000111691
00111292
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000111692
00111293
DNA
SEQ
-
-
1
Johan den Dunnen
0000111693
00111294
DNA
DHPLC
-
-
1
Johan den Dunnen
0000111694
00111296
DNA
SEQ
-
-
1
Johan den Dunnen
0000111695
00111297
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000111696
00111298
DNA
SEQ
-
-
1
Johan den Dunnen
0000111697
00111299
DNA
SEQ
-
-
1
Johan den Dunnen
0000111698
00111300
DNA
PCR;SSCA;SEQ
-
-
1
Johan den Dunnen
0000111699
00111301
DNA
SEQ
-
-
1
Johan den Dunnen
0000111700
00111302
DNA
SEQ
-
-
1
Johan den Dunnen
0000111701
00111303
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000111702
00111304
DNA
SEQ
-
-
1
Johan den Dunnen
0000111703
00111305
DNA
SEQ
-
-
1
Johan den Dunnen
0000111704
00111307
DNA
SEQ
-
-
1
Johan den Dunnen
0000111705
00111308
DNA
SEQ
-
-
1
Johan den Dunnen
0000111706
00111309
DNA
SEQ
-
-
1
Johan den Dunnen
0000111707
00111310
DNA
SEQ
-
-
1
Johan den Dunnen
0000111708
00111311
DNA
PCR;SSCA;SEQ
-
-
1
Johan den Dunnen
0000111709
00111312
DNA
SEQ
-
-
1
Johan den Dunnen
0000111710
00111313
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000111711
00111314
DNA
PCR;SSCA;SEQ
-
-
1
Johan den Dunnen
0000111712
00111315
DNA
SEQ
-
-
1
Johan den Dunnen
0000111713
00111316
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000111714
00111318
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000111715
00111319
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000111716
00111320
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000111717
00111321
DNA
SEQ
-
-
1
Johan den Dunnen
0000111718
00111322
DNA
SEQ
-
-
1
Johan den Dunnen
0000111719
00111323
DNA
DHPLC;SEQ
-
-
1
Johan den Dunnen
0000111720
00111324
DNA
SEQ
-
-
1
Johan den Dunnen
0000111721
00111325
DNA
SEQ
-
-
1
Johan den Dunnen
0000111722
00111326
DNA
SEQ
-
-
1
Janneke Weiss
0000111723
00111327
DNA
SEQ
-
-
1
Srdjan Novaković
0000111724
00111329
DNA
SEQ
-
-
1
Johan den Dunnen
0000111725
00111330
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000111726
00111331
DNA
SEQ
-
-
1
Johan den Dunnen
0000111727
00111332
DNA
SEQ
-
-
1
Johan den Dunnen
0000111728
00111333
DNA
PCR;SSCA;SEQ
-
-
1
Johan den Dunnen
0000111729
00111334
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000111730
00111335
DNA
PCR;SSCA;SEQ
-
-
1
Johan den Dunnen
0000111731
00111336
DNA
SEQ
-
-
1
Johan den Dunnen
0000111732
00111337
DNA
SEQ
-
-
1
Johan den Dunnen
0000111733
00111338
DNA
PCR;SSCA;SEQ
-
-
1
Johan den Dunnen
0000111734
00111340
DNA
PCR;SSCA;SEQ
-
-
1
Johan den Dunnen
0000111735
00111341
DNA
SEQ
-
-
1
Johan den Dunnen
0000111736
00111342
DNA
PCR;SSCA;SEQ
-
-
1
Johan den Dunnen
0000111737
00111343
DNA
SEQ
-
-
1
Johan den Dunnen
0000111738
00111344
DNA
SEQ
-
-
1
Johan den Dunnen
0000111739
00111345
DNA
PCR;SSCA;SEQ
-
-
1
Johan den Dunnen
0000111740
00111346
DNA
SEQ
-
-
1
Johan den Dunnen
0000111741
00111347
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000111742
00111348
DNA
SEQ
-
-
1
Johan den Dunnen
0000111743
00111349
DNA
SEQ
-
-
1
Johan den Dunnen
0000111744
00111351
DNA
SEQ
-
-
1
Johan den Dunnen
0000111745
00111352
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000111746
00111353
DNA
SEQ
-
-
1
Johan den Dunnen
0000111747
00111354
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000111748
00111355
DNA
SEQ
-
-
1
Janneke Weiss
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
« First
Prev
1
2
3
4
5
Next
Last »
Powered by
LOVD v.3.0
Build 28d
LOVD software ©2004-2023
Leiden University Medical Center