Global Variome shared LOVD
CNGB3 (cyclic nucleotide gated channel beta 3)
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Curator:
Global Variome, with Curator vacancy
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View all transcripts of gene CNGB3
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View all variants affecting transcripts
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View all diseases associated with gene CNGB3
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All screenings for gene CNGB3
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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.
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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.
724 entries on 8 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
0000096347
00095944
DNA
SEQ
WBC
-
1
James Hejtmancik
0000105518
00105022
DNA
SEQ-NG-I
-
-
3
Marta de Castro-Miró
0000152901
00152045
DNA
SEQ-NG
Blood
-
1
Fabian Garces
0000153548
00152690
DNA
SEQ-NG
Blood
-
1
Fabian Garces
0000153549
00152691
DNA
SEQ-NG
Blood
-
2
Fabian Garces
0000153550
00152692
DNA
SEQ-NG
Blood
-
2
Fabian Garces
0000153551
00152693
DNA
SEQ-NG
Blood
-
2
Fabian Garces
0000153564
00152703
DNA
SEQ-NG
Blood
-
1
Fabian Garces
0000153566
00152704
DNA
SEQ-NG
Blood
-
-
Fabian Garces
0000153567
00152705
DNA
SEQ-NG
Blood
-
2
Fabian Garces
0000153568
00152706
DNA
SEQ-NG
Blood
-
2
Fabian Garces
0000153569
00152707
DNA
SEQ-NG
Blood
-
2
Fabian Garces
0000153580
00152718
DNA
SEQ-NG
Blood
-
2
Fabian Garces
0000153581
00152719
DNA
SEQ-NG
Blood
-
1
Fabian Garces
0000156305
00155440
DNA
SEQ
-
-
2
Dror Sharon
0000156306
00155441
DNA
SEQ
-
-
1
Dror Sharon
0000156307
00155442
DNA
SEQ
-
-
2
Dror Sharon
0000156308
00155443
DNA
SEQ
-
-
1
Dror Sharon
0000156309
00155444
DNA
SEQ
-
-
1
Dror Sharon
0000156310
00155445
DNA
SEQ
-
-
1
Dror Sharon
0000156311
00155446
DNA
SEQ
-
-
2
Dror Sharon
0000171731
00170849
DNA
SEQ-NG
-
Gene Panel (79 IRD genes)
2
María González-del Pozo
0000174623
00173732
DNA
SEQ
-
-
1
Johan den Dunnen
0000174624
00173733
DNA
SEQ
-
-
2
Johan den Dunnen
0000174628
00173737
DNA
SEQ
-
-
1
Johan den Dunnen
0000174629
00173738
DNA
SEQ
-
-
1
Johan den Dunnen
0000174630
00173739
DNA
SEQ
-
-
Not yet submitted
Johan den Dunnen
0000174631
00173740
DNA
SEQ
-
-
2
Johan den Dunnen
0000174632
00173741
DNA
SEQ
-
-
2
Johan den Dunnen
0000174633
00173742
DNA
SEQ
-
-
1
Johan den Dunnen
0000174634
00173743
DNA
SEQ
-
-
1
Johan den Dunnen
0000174635
00173744
DNA
SEQ
-
-
1
Johan den Dunnen
0000174636
00173745
DNA
SEQ
-
-
1
Johan den Dunnen
0000174637
00173746
DNA
SEQ
-
-
1
Johan den Dunnen
0000174638
00173747
DNA
SEQ
-
-
1
Johan den Dunnen
0000174639
00173748
DNA
SEQ
-
-
1
Johan den Dunnen
0000309644
00308499
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000309645
00308500
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000310239
00309094
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000310240
00309095
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000310241
00309096
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000310242
00309097
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000310243
00309098
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000310244
00309099
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000310245
00309100
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000310246
00309101
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000310247
00309102
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000310248
00309103
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000321006
00319825
DNA
SEQ
-
-
1
Julia Lopez
0000321007
00319826
DNA
SEQ
-
-
2
Julia Lopez
0000321008
00319827
DNA
SEQ
-
-
2
Julia Lopez
0000321009
00319828
DNA
SEQ
-
-
2
Julia Lopez
0000321010
00319829
DNA
SEQ
-
-
1
Julia Lopez
0000321011
00319830
DNA
SEQ
-
-
1
Julia Lopez
0000321012
00319831
DNA
SEQ
-
-
1
Julia Lopez
0000321013
00319832
DNA
SEQ
-
-
1
Julia Lopez
0000321014
00319833
DNA
SEQ
-
-
1
Julia Lopez
0000321015
00319834
DNA
SEQ
-
-
2
Julia Lopez
0000321226
00320042
DNA
SEQ
Blood
-
2
Julia Lopez
0000321227
00320043
DNA
SEQ
Blood
-
2
Julia Lopez
0000321228
00320044
DNA
SEQ
Blood
-
1
Julia Lopez
0000321229
00320045
DNA
SEQ
Blood
-
1
Julia Lopez
0000321230
00320046
DNA
SEQ
Blood
-
1
Julia Lopez
0000321231
00320047
DNA
SEQ
Blood
-
1
Julia Lopez
0000321232
00320048
DNA
SEQ
Blood
-
1
Julia Lopez
0000321233
00320049
DNA
SEQ
Blood
-
1
Julia Lopez
0000321234
00320050
DNA
SEQ
Blood
-
1
Julia Lopez
0000321235
00320051
DNA
SEQ
Blood
-
1
Julia Lopez
0000321236
00320052
DNA
SEQ
Blood
-
2
Julia Lopez
0000321237
00320053
DNA
SEQ
Blood
-
1
Julia Lopez
0000321238
00320054
DNA
SEQ
Blood
-
1
Julia Lopez
0000321239
00320055
DNA
SEQ
Blood
-
1
Julia Lopez
0000321240
00320056
DNA
SEQ
Blood
-
1
Julia Lopez
0000321241
00320057
DNA
SEQ
Blood
-
1
Julia Lopez
0000321242
00320058
DNA
SEQ
Blood
-
2
Julia Lopez
0000321243
00320059
DNA
SEQ
Blood
-
1
Julia Lopez
0000321244
00320060
DNA
SEQ
Blood
-
1
Julia Lopez
0000321245
00320061
DNA
SEQ
Blood
-
1
Julia Lopez
0000321246
00320062
DNA
SEQ
Blood
-
1
Julia Lopez
0000321247
00320063
DNA
SEQ
Blood
-
1
Julia Lopez
0000321248
00320064
DNA
SEQ
Blood
-
1
Julia Lopez
0000325438
00324248
DNA
SEQ
-
-
2
Julia Lopez
0000325439
00324249
DNA
SEQ
-
-
2
Julia Lopez
0000325440
00324250
DNA
SEQ
-
-
2
Julia Lopez
0000325441
00324251
DNA
SEQ
-
-
2
Julia Lopez
0000325442
00324252
DNA
SEQ
-
-
2
Julia Lopez
0000325443
00324253
DNA
SEQ
-
-
2
Julia Lopez
0000325444
00324254
DNA
SEQ
-
-
2
Julia Lopez
0000325445
00324255
DNA
SEQ
-
-
1
Julia Lopez
0000325446
00324256
DNA
SEQ
-
-
1
Julia Lopez
0000325447
00324257
DNA
SEQ
-
-
2
Julia Lopez
0000325448
00324258
DNA
SEQ
-
-
1
Julia Lopez
0000325449
00324259
DNA
SEQ
-
-
1
Julia Lopez
0000325450
00324260
DNA
SEQ
-
-
1
Julia Lopez
0000325451
00324261
DNA
SEQ
-
-
1
Julia Lopez
0000325452
00324262
DNA
SEQ
-
-
1
Julia Lopez
0000325453
00324263
DNA
SEQ
-
-
1
Julia Lopez
0000325454
00324264
DNA
SEQ
-
-
2
Julia Lopez
0000325455
00324265
DNA
SEQ
-
-
2
Julia Lopez
0000325456
00324266
DNA
SEQ
-
-
1
Julia Lopez
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