Global Variome shared LOVD
CC2D2A (coiled-coil and C2 domain containing 2A)
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Curator:
Jonna Tallila
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All screenings for gene CC2D2A
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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
arrayMET = array for methylation analysis
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 = single 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
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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.
158 entries on 2 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000016543
00016591
DNA
SEQ-NG-I
peripheral blood
-
1
Hanno Bolz
0000028954
00028922
DNA
SEQ-NG-S
blood
-
3
Sanne Savelberg
0000033159
00033091
DNA
SEQ;SEQ-NG-S
-
-
6
Kornelia Neveling
0000033187
00033119
DNA
SEQ;SEQ-NG-S
-
-
3
Kornelia Neveling
0000050595
00050650
DNA
SEQ;SEQ-NG-I
-
-
1
Johan den Dunnen
0000081192
00081080
DNA
SEQ;SEQ-NG
-
-
1
Daniel Trujillano
0000226781
00225714
DNA
SEQ
-
-
1
Johan den Dunnen
0000226782
00225715
DNA
SEQ
-
-
1
Johan den Dunnen
0000226783
00225716
DNA
SEQ
-
wes
1
Johan den Dunnen
0000226784
00225717
DNA
SEQ
-
WES
1
Johan den Dunnen
0000226785
00225718
DNA
SEQ
-
WES
1
Johan den Dunnen
0000226786
00225719
DNA
SEQ
-
-
1
Johan den Dunnen
0000226793
00225726
DNA
SEQ
-
-
1
Johan den Dunnen
0000226794
00225727
DNA
SEQ
-
-
2
Johan den Dunnen
0000226795
00225728
DNA
SEQ
-
-
1
Johan den Dunnen
0000226796
00225729
DNA
SEQ
-
-
1
Johan den Dunnen
0000226797
00225730
DNA
SEQ
-
-
1
Johan den Dunnen
0000226798
00225731
DNA
SEQ
-
-
1
Johan den Dunnen
0000226799
00225732
DNA
SEQ
-
-
1
Johan den Dunnen
0000226800
00225733
DNA
SEQ
-
-
1
Johan den Dunnen
0000226801
00225734
DNA
SEQ
-
-
1
Johan den Dunnen
0000226802
00225735
DNA
SEQ
-
-
1
Johan den Dunnen
0000226803
00225736
DNA
SEQ
-
-
1
Johan den Dunnen
0000226804
00225737
DNA
SEQ
-
-
1
Johan den Dunnen
0000226805
00225738
DNA
SEQ
-
-
1
Johan den Dunnen
0000226806
00225739
DNA
SEQ
-
-
1
Johan den Dunnen
0000226807
00225740
DNA
SEQ
-
-
2
Johan den Dunnen
0000226808
00225741
DNA
SEQ
-
-
2
Johan den Dunnen
0000226809
00225742
DNA
SEQ
-
-
2
Johan den Dunnen
0000226810
00225743
DNA
SEQ
-
-
2
Johan den Dunnen
0000226811
00225744
DNA
SEQ
-
-
2
Johan den Dunnen
0000226812
00225745
DNA
SEQ
-
-
2
Johan den Dunnen
0000226813
00225746
DNA
SEQ
-
-
2
Johan den Dunnen
0000226814
00225747
DNA
SEQ
-
-
1
Johan den Dunnen
0000226815
00225748
DNA
SEQ
-
-
1
Johan den Dunnen
0000270575
00269432
DNA
SEQ-NG
blood
-
1
Jinu Han
0000332565
00331346
DNA
SEQ;SEQ-NG
-
WES
1
LOVD
0000332566
00331347
DNA
SEQ;SEQ-NG
-
WES
1
LOVD
0000332567
00331348
DNA
SEQ;SEQ-NG
-
WES
1
LOVD
0000337192
00335962
DNA
SEQ-NG
-
gene panel
1
LOVD
0000364623
00363395
DNA
SEQ-NG
-
WES
2
LOVD
0000364630
00363402
DNA
SEQ-NG
-
WES
1
LOVD
0000364773
00363545
DNA
SEQ;SEQ-NG
-
WES
2
LOVD
0000364774
00363546
DNA
SEQ;SEQ-NG
-
WES
2
LOVD
0000364775
00363547
DNA
SEQ;SEQ-NG
-
WES
2
LOVD
0000364776
00363548
DNA
SEQ;SEQ-NG
-
WES
2
LOVD
0000364777
00363549
DNA
SEQ;SEQ-NG
-
WES
2
LOVD
0000364778
00363550
DNA
SEQ;SEQ-NG
-
WES
2
LOVD
0000364779
00363551
DNA
SEQ;SEQ-NG
-
WES
2
LOVD
0000364780
00363552
DNA
SEQ;SEQ-NG
-
WES
2
LOVD
0000364781
00363553
DNA
SEQ;SEQ-NG
-
WES
2
LOVD
0000364782
00363554
DNA
SEQ;SEQ-NG
-
WES
2
LOVD
0000364783
00363555
DNA
SEQ;SEQ-NG
-
WES
2
LOVD
0000373413
00372184
DNA
SEQ
-
27-gene panel
1
LOVD
0000373414
00372185
DNA
SEQ
-
27-gene panel
1
LOVD
0000373415
00372186
DNA
SEQ
-
27-gene panel
2
LOVD
0000373416
00372187
DNA
SEQ
-
27-gene panel
2
LOVD
0000373417
00372188
DNA
SEQ
-
27-gene panel
2
LOVD
0000373418
00372189
DNA
SEQ
-
27-gene panel
1
LOVD
0000373419
00372190
DNA
SEQ
-
27-gene panel
2
LOVD
0000373420
00372191
DNA
SEQ
-
27-gene panel
1
LOVD
0000373421
00372192
DNA
SEQ
-
27-gene panel
1
LOVD
0000373422
00372193
DNA
SEQ
-
27-gene panel
2
LOVD
0000373423
00372194
DNA
SEQ
-
27-gene panel
2
LOVD
0000373424
00372195
DNA
SEQ
-
27-gene panel
2
LOVD
0000373425
00372196
DNA
SEQ
-
27-gene panel
2
LOVD
0000373426
00372197
DNA
SEQ
-
27-gene panel
2
LOVD
0000373427
00372198
DNA
SEQ
-
27-gene panel
2
LOVD
0000373428
00372199
DNA
SEQ
-
27-gene panel
2
LOVD
0000373429
00372200
DNA
SEQ
-
27-gene panel
2
LOVD
0000373430
00372201
DNA
SEQ
-
27-gene panel
2
LOVD
0000373431
00372202
DNA
SEQ
-
27-gene panel
2
LOVD
0000373432
00372203
DNA
SEQ
-
27-gene panel
2
LOVD
0000373433
00372204
DNA
SEQ
-
27-gene panel
2
LOVD
0000373434
00372205
DNA
SEQ
-
27-gene panel
2
LOVD
0000373435
00372206
DNA
SEQ
-
27-gene panel
1
LOVD
0000373436
00372207
DNA
SEQ
-
27-gene panel
1
LOVD
0000373437
00372208
DNA
SEQ
-
27-gene panel
1
LOVD
0000373438
00372209
DNA
SEQ
-
27-gene panel
1
LOVD
0000373439
00372210
DNA
SEQ
-
27-gene panel
2
LOVD
0000373440
00372211
DNA
SEQ
-
27-gene panel
2
LOVD
0000373441
00372212
DNA
SEQ
-
27-gene panel
2
LOVD
0000373442
00372213
DNA
SEQ
-
27-gene panel
2
LOVD
0000373443
00372214
DNA
SEQ
-
27-gene panel
1
LOVD
0000373444
00372215
DNA
SEQ
-
27-gene panel
1
LOVD
0000373445
00372216
DNA
SEQ
-
27-gene panel
2
LOVD
0000373446
00372217
DNA
SEQ
-
27-gene panel
2
LOVD
0000373447
00372218
DNA
SEQ
-
27-gene panel
2
LOVD
0000373448
00372219
DNA
SEQ
-
27-gene panel
2
LOVD
0000373449
00372220
DNA
SEQ
-
27-gene panel
1
LOVD
0000373450
00372221
DNA
SEQ
-
27-gene panel
2
LOVD
0000373451
00372222
DNA
SEQ
-
27-gene panel
2
LOVD
0000373602
00372373
DNA
SEQ
-
27-gene panel
2
LOVD
0000373603
00372374
DNA
SEQ
-
27-gene panel
2
LOVD
0000373604
00372375
DNA
SEQ
-
27-gene panel
2
LOVD
0000374618
00373383
DNA
SEQ-NG
-
22-gene panel
1
LOVD
0000374627
00373392
DNA
SEQ-NG
-
22-gene panel
1
LOVD
0000374635
00373400
DNA
SEQ-NG
-
22-gene panel
1
LOVD
0000375873
00374679
DNA
SEQ-NG
-
TruSight One panel
2
Johan den Dunnen
0000378841
00377637
DNA
SEQ-NG
blood
targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome
2
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