Global Variome shared LOVD
IMPG1 (interphotoreceptor matrix proteoglycan 1)
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View IMPG1 gene homepage
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View all transcripts of gene IMPG1
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View all diseases associated with gene IMPG1
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All screenings for gene IMPG1
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.
69 entries on 1 page. Showing entries 1 - 69.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000310957
00309812
DNA
SEQ
-
-
1
Johan den Dunnen
0000310958
00309813
DNA
SEQ
-
-
1
Johan den Dunnen
0000310959
00309814
DNA
SEQ
-
-
1
Johan den Dunnen
0000310971
00309826
DNA
SEQ
-
-
1
Johan den Dunnen
0000310972
00309827
DNA
SEQ
-
-
1
Johan den Dunnen
0000329533
00328318
DNA
SEQ-NG
-
WGS
1
LOVD
0000360015
00358785
DNA
SEQ-NG
-
226-gene panel
1
LOVD
0000364613
00363385
DNA
SEQ-NG
-
WES
1
LOVD
0000374720
00373485
DNA
SEQ-NG
-
73-gene panel
1
LOVD
0000378942
00377738
DNA
PCR
-
-
1
LOVD
0000378943
00377739
DNA
PCR
-
-
1
LOVD
0000378944
00377740
DNA
PCR
-
-
1
LOVD
0000378945
00377741
DNA
PCR
-
-
1
LOVD
0000378946
00377742
DNA
PCR
-
-
1
LOVD
0000378947
00377743
DNA
PCR
-
-
1
LOVD
0000378948
00377744
DNA
PCR
-
-
1
LOVD
0000378949
00377745
DNA
PCR
-
-
1
LOVD
0000378950
00377746
DNA
PCR
-
-
1
LOVD
0000378951
00377747
DNA
PCR
-
-
1
LOVD
0000385287
00384062
DNA
SEQ-NG-I
-
-
1
LOVD
0000388071
00386843
DNA
SEQ-NG-I;SEQ
blood
-
1
LOVD
0000390170
00388927
DNA
SEQ-NG
blood
RET6 targeted sequencing panel - see paper
1
LOVD
0000390787
00389544
DNA
SEQ-NG
blood
RET8 targeted sequencing panel - see paper
1
LOVD
0000390789
00389546
DNA
SEQ-NG
blood
RET8 targeted sequencing panel - see paper
1
LOVD
0000391525
00390284
DNA
SEQ-NG-I
blood
whole genome sequencing
1
LOVD
0000391526
00390285
DNA
SEQ-NG-I
blood
whole genome sequencing
1
LOVD
0000397090
00395851
DNA
SEQ-NG
blood
212 inherited retinal disease-related genes
1
LOVD
0000416061
00414780
DNA;RNA
ARMS
blood
-
1
LOVD
0000416062
00414781
DNA;RNA
ARMS
blood
-
1
LOVD
0000416063
00414782
DNA;RNA
ARMS
blood
-
1
LOVD
0000416064
00414783
DNA;RNA
ARMS
blood
-
1
LOVD
0000416065
00414784
DNA;RNA
ARMS
blood
-
1
LOVD
0000416066
00414785
DNA;RNA
ARMS
blood
-
1
LOVD
0000416067
00414786
DNA;RNA
ARMS
blood
-
1
LOVD
0000416068
00414787
DNA;RNA
SEQ;ARMS
blood
-
1
LOVD
0000416069
00414788
DNA;RNA
ARMS;SEQ;SEQ-NG
blood
WES
1
LOVD
0000416094
00414813
DNA
STR;SEQ-NG;SEQ
blood
-
1
LOVD
0000416095
00414814
DNA
STR;SEQ-NG;SEQ
blood
-
1
LOVD
0000416096
00414815
DNA
STR;SEQ-NG;SEQ
blood
-
1
LOVD
0000416097
00414816
DNA
STR;SEQ-NG;SEQ
blood
-
1
LOVD
0000416098
00414817
DNA
STR;SEQ-NG;SEQ
blood
-
1
LOVD
0000416099
00414818
DNA
STR;SEQ-NG;SEQ
blood
-
1
LOVD
0000416100
00414819
DNA
STR;SEQ-NG;SEQ
blood
-
1
LOVD
0000416101
00414820
DNA
STR;SEQ-NG;SEQ
blood
-
1
LOVD
0000416102
00414821
DNA
STR;SEQ-NG;SEQ
blood
-
1
LOVD
0000416103
00414822
DNA
STR;SEQ-NG;SEQ
blood
-
1
LOVD
0000416104
00414823
DNA
STR;SEQ-NG;SEQ
blood
-
1
LOVD
0000416105
00414824
DNA
STR;SEQ-NG;SEQ
blood
-
1
LOVD
0000416106
00414825
DNA
STR;SEQ-NG;SEQ
blood
-
1
LOVD
0000416107
00414826
DNA
STR;SEQ-NG;SEQ
blood
-
1
LOVD
0000416108
00414827
DNA
STR;SEQ-NG;SEQ
blood
-
1
LOVD
0000416109
00414828
DNA
STR;SEQ
blood
-
1
LOVD
0000416110
00414829
DNA
STR;SEQ
blood
-
1
LOVD
0000416111
00414830
DNA
STR;SEQ
blood
-
2
LOVD
0000416112
00414831
DNA
STR;SEQ
blood
-
2
LOVD
0000416113
00414832
DNA
STR;SEQ
blood
-
1
LOVD
0000416114
00414833
DNA
SEQ
blood
-
1
LOVD
0000416121
00414840
DNA
SEQ
blood
-
1
LOVD
0000416122
00414841
DNA
SEQ
blood
-
1
LOVD
0000418790
00417497
DNA
SEQ
-
-
1
Johan den Dunnen
0000418792
00417499
DNA
SEQ
-
-
1
Johan den Dunnen
0000418793
00417500
DNA
SEQ
-
-
1
Johan den Dunnen
0000418794
00417501
DNA
SEQ
-
-
1
Johan den Dunnen
0000418795
00417502
DNA
SEQ
-
-
1
Johan den Dunnen
0000418796
00417503
DNA
SEQ
-
-
1
Johan den Dunnen
0000418797
00417504
DNA
SEQ
-
-
1
Johan den Dunnen
0000418798
00417505
DNA
SEQ
-
-
1
Johan den Dunnen
0000418799
00417506
DNA
SEQ
-
-
1
Johan den Dunnen
0000421848
00420539
DNA
SEQ-NG
-
targeted 212 IRD-related genes
1
LOVD
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