Global Variome shared LOVD
RPGRIP1 (retinitis pigmentosa GTPase regulator inte...)
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Curator:
Global Variome, with Curator vacancy
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All screenings for gene RPGRIP1
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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.
388 entries on 4 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000033224
00033156
DNA
SEQ;SEQ-NG-S
-
-
4
Kornelia Neveling
0000033420
00033352
DNA
SEQ
-
-
2
Leen Abu Safieh
0000033421
00033353
DNA
SEQ
-
-
2
Leen Abu Safieh
0000033422
00033354
DNA
SEQ
-
-
2
Leen Abu Safieh
0000033423
00033355
DNA
SEQ
-
-
2
Leen Abu Safieh
0000033424
00033356
DNA
SEQ
-
-
2
Leen Abu Safieh
0000033425
00033357
DNA
SEQ
-
-
2
Leen Abu Safieh
0000033429
00033361
DNA
SEQ-NG-I
-
-
2
Leen Abu Safieh
0000033430
00033362
DNA
SEQ-NG-I
-
-
2
Leen Abu Safieh
0000033431
00033363
DNA
SEQ-NG-I
-
-
2
Leen Abu Safieh
0000033656
00033588
DNA
SEQ
-
-
2
Chitra Kannabiran
0000033673
00033605
DNA
SEQ
-
-
2
Marcel Nelen
0000033674
00033606
DNA
SEQ
-
-
2
Marcel Nelen
0000033675
00033607
DNA
SEQ
-
-
2
Marcel Nelen
0000033790
00033722
DNA
SEQ-NG-I
-
-
1
Soumittra Nagasamy
0000033791
00033723
DNA
SEQ-NG-I
-
-
1
Soumittra Nagasamy
0000033792
00033724
DNA
SEQ-NG-I
-
-
1
Soumittra Nagasamy
0000033793
00033725
DNA
SEQ-NG-I
-
-
2
Soumittra Nagasamy
0000100522
00100118
DNA
SEQ
WBC
-
1
James Hejtmancik
0000156413
00155548
DNA
SEQ
-
-
1
Dror Sharon
0000156414
00155549
DNA
SEQ
-
-
1
Dror Sharon
0000156415
00155550
DNA
SEQ
-
-
1
Dror Sharon
0000241570
00240460
DNA
SEQ-NG-I
blood
-
1
Juan Carlos Zenteno
0000241571
00240461
DNA
SEQ-NG-I
blood
-
1
Juan Carlos Zenteno
0000270575
00269432
DNA
SEQ-NG
blood
-
1
Jinu Han
0000309543
00308399
DNA
SEQ;SEQ-NG
-
123 gene panel
1
Global Variome, with Curator vacancy
0000309705
00308560
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000309769
00308624
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000310553
00309408
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000310554
00309409
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000310555
00309410
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000310556
00309411
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000310557
00309412
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000326667
00325456
DNA
SEQ;SEQ-NG
-
199 gene panel
1
Johan den Dunnen
0000326669
00325458
DNA
SEQ;SEQ-NG
-
199 gene panel
1
Johan den Dunnen
0000326684
00325473
DNA
SEQ;SEQ-NG
-
199 gene panel
1
Johan den Dunnen
0000326701
00325490
DNA
SEQ;SEQ-NG
-
199 gene panel
1
Johan den Dunnen
0000329168
00327953
DNA
SEQ-NG
-
WES
2
LOVD
0000329388
00328173
DNA
SEQ-NG
-
WGS
1
LOVD
0000329543
00328328
DNA
SEQ-NG
-
WGS
1
LOVD
0000329551
00328336
DNA
SEQ-NG
-
WGS
2
LOVD
0000329711
00328496
DNA
SEQ-NG
-
gene panel
2
LOVD
0000333576
00332353
DNA
SEQ
-
-
3
LOVD
0000333577
00332354
DNA
SEQ
-
-
2
LOVD
0000333612
00332388
DNA
SEQ-NG
-
gene panel
2
LOVD
0000333613
00332389
DNA
SEQ-NG
-
gene panel
1
LOVD
0000333632
00332408
DNA
SEQ;SEQ-NG
-
4813 clinical gene panel
1
Johan den Dunnen
0000333633
00332409
DNA
SEQ;SEQ-NG
-
4813 clinical gene panel
2
Johan den Dunnen
0000333695
00332471
DNA
SEQ-NG
-
150-gene panel
2
LOVD
0000334682
00333457
DNA
SEQ
-
-
1
LOVD
0000334691
00333466
DNA
SEQ
-
-
2
LOVD
0000334703
00333478
DNA
SEQ
-
-
2
LOVD
0000335190
00333964
DNA
SEQ-NG
-
-
1
LOVD
0000335191
00333965
DNA
SEQ-NG
-
-
2
LOVD
0000336397
00335168
DNA
SEQ-NG
-
gene panel
2
LOVD
0000336468
00335239
DNA
SEQ-NG
-
212-gene panel
2
LOVD
0000336571
00335342
DNA
SEQ-NG
-
68-gene panel
1
Nereida Bravo Gil
0000336727
00335498
DNA
SEQ-NG
-
72-gene panel
2
LOVD
0000336821
00335593
DNA
DHPLC;PCR;SEQ
blood
-
1
Julia Lopez
0000336822
00335594
DNA
DHPLC;PCR;SEQ
blood
-
1
Julia Lopez
0000336842
00335614
DNA
DHPLC;PCR;SEQ
-
-
1
Julia Lopez
0000336843
00335615
DNA
DHPLC;PCR;SEQ
-
-
1
Julia Lopez
0000336844
00335616
DNA
DHPLC;PCR;SEQ
-
-
1
Julia Lopez
0000336845
00335617
DNA
DHPLC;PCR;SEQ
-
-
1
Julia Lopez
0000336846
00335618
DNA
DHPLC;PCR;SEQ
-
-
1
Julia Lopez
0000336847
00335619
DNA
DHPLC;PCR;SEQ
-
-
1
Julia Lopez
0000336848
00335620
DNA
DHPLC;PCR;SEQ
-
-
1
Julia Lopez
0000336849
00335621
DNA
DHPLC;PCR;SEQ
-
-
1
Julia Lopez
0000336850
00335622
DNA
DHPLC;PCR;SEQ
-
-
1
Julia Lopez
0000360146
00358913
DNA
SEQ-NG
-
gene panel
2
LOVD
0000360147
00358914
DNA
SEQ-NG
-
gene panel
1
LOVD
0000360148
00358915
DNA
SEQ-NG
-
gene panel
1
LOVD
0000360149
00358916
DNA
SEQ-NG
-
gene panel
2
LOVD
0000360163
00358930
DNA
SEQ-NG
-
WES
1
LOVD
0000360564
00359323
DNA
SEQ-NG
-
105-gene panel
1
LOVD
0000363378
00362149
DNA
SEQ-NG
-
WES
2
Johan den Dunnen
0000363379
00362150
DNA
SEQ-NG
-
WES
2
Johan den Dunnen
0000363459
00362230
DNA
SEQ-NG
-
-
1
Zeinab Fadaie
0000364159
00362931
DNA
SEQ-NG
-
gene panel
2
LOVD
0000364701
00363473
DNA
SEQ-NG
-
195-gene panel
3
LOVD
0000364831
00363603
DNA
SEQ-NG
-
gene panel
1
LOVD
0000364862
00363634
DNA
SEQ-NG
-
gene panel
1
LOVD
0000364871
00363643
DNA
SEQ-NG
-
gene panel
1
LOVD
0000364877
00363649
DNA
SEQ-NG
-
gene panel
1
LOVD
0000364899
00363671
DNA
SEQ-NG
-
gene panel
1
LOVD
0000364940
00363712
DNA
SEQ-NG
-
gene panel
1
LOVD
0000364965
00363737
DNA
SEQ-NG
-
gene panel
1
LOVD
0000373649
00372416
DNA
SEQ-NG
-
163-gene panel
1
LOVD
0000373680
00372447
DNA
SEQ-NG
-
163-gene panel
2
LOVD
0000373681
00372448
DNA
SEQ-NG
-
163-gene panel
2
LOVD
0000373682
00372449
DNA
SEQ-NG
-
163-gene panel
2
LOVD
0000373683
00372450
DNA
SEQ-NG
-
163-gene panel
2
LOVD
0000373684
00372451
DNA
SEQ-NG
-
163-gene panel
2
LOVD
0000373685
00372452
DNA
SEQ-NG
-
163-gene panel
2
LOVD
0000373686
00372453
DNA
SEQ-NG
-
163-gene panel
2
LOVD
0000373687
00372454
DNA
SEQ-NG
-
163-gene panel
2
LOVD
0000373724
00372491
DNA
SEQ-NG
-
163-gene panel
2
LOVD
0000374578
00373343
DNA
arraySNP;SEQ
-
-
1
Johan den Dunnen
0000374643
00373408
DNA
arraySNP;SEQ
-
-
1
LOVD
0000374644
00373409
DNA
arraySNP;SEQ
-
-
1
LOVD
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