Global Variome shared LOVD
ARG1 (arginase, liver)
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View all diseases associated with gene ARG1
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All screenings for gene ARG1
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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
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-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.
131 entries on 2 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000108936
00108469
DNA
SEQ
-
-
2
Johan den Dunnen
0000108937
00108470
DNA
SEQ
-
-
1
Johan den Dunnen
0000108938
00108471
DNA
SEQ
-
-
2
Johan den Dunnen
0000108939
00108472
DNA
SEQ
-
-
1
Johan den Dunnen
0000108940
00108473
DNA
SEQ
-
-
1
Johan den Dunnen
0000108941
00108474
DNA
SEQ
-
-
1
Johan den Dunnen
0000108942
00108475
DNA
SEQ
-
-
1
Johan den Dunnen
0000108943
00108476
DNA
SEQ
-
-
1
Johan den Dunnen
0000108944
00108477
DNA
MCA;SEQ
-
-
1
Johan den Dunnen
0000108945
00108478
DNA
SEQ
-
-
2
Johan den Dunnen
0000108946
00108479
DNA
MCA;SEQ
-
-
1
Johan den Dunnen
0000108947
00108480
DNA
MCA;SEQ
-
-
1
Johan den Dunnen
0000108948
00108481
DNA
SEQ
-
-
2
Johan den Dunnen
0000108949
00108482
DNA
SEQ
-
-
1
Johan den Dunnen
0000108950
00108483
DNA
MCA;SEQ
-
-
1
Johan den Dunnen
0000108951
00108484
DNA
SEQ
-
-
1
Johan den Dunnen
0000108952
00108485
DNA
SEQ
-
-
1
Johan den Dunnen
0000108953
00108486
DNA
SEQ
-
-
1
Johan den Dunnen
0000108954
00108487
DNA
SEQ
-
-
1
Johan den Dunnen
0000249400
00248295
DNA
SEQ
-
-
2
Johan den Dunnen
0000405786
00404547
DNA
SEQ;SSCA
-
-
1
Johan den Dunnen
0000405787
00404548
DNA
SEQ;SSCA
-
-
1
Johan den Dunnen
0000405805
00404566
DNA
SEQ
-
-
1
Johan den Dunnen
0000405806
00404567
DNA
SEQ;SSCA
-
-
1
Johan den Dunnen
0000405807
00404568
DNA
SEQ;SSCA
-
-
1
Johan den Dunnen
0000405808
00404569
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000405809
00404570
DNA
SEQ;SSCA
-
-
1
Johan den Dunnen
0000405810
00404571
DNA
SEQ;SSCA
-
-
1
Johan den Dunnen
0000405813
00404573
DNA
arraySNP
-
-
1
Johan den Dunnen
0000405814
00404574
DNA
SEQ
-
-
2
Johan den Dunnen
0000405815
00404575
DNA
SEQ
-
-
1
Johan den Dunnen
0000405816
00404576
DNA
SEQ
-
-
2
Johan den Dunnen
0000405817
00404577
DNA
SEQ
-
-
1
Johan den Dunnen
0000405818
00404578
DNA
SEQ
-
-
1
Johan den Dunnen
0000405819
00404579
DNA
SEQ
-
-
1
Johan den Dunnen
0000405820
00404580
DNA
SEQ
-
-
1
Johan den Dunnen
0000405821
00404581
DNA
SEQ
-
-
2
Johan den Dunnen
0000405822
00404582
DNA
SEQ
-
-
1
Johan den Dunnen
0000405823
00404583
DNA
SEQ
-
-
2
Johan den Dunnen
0000405824
00404584
DNA
SEQ
-
-
2
Johan den Dunnen
0000405825
00404585
DNA
SEQ
-
-
1
Johan den Dunnen
0000405826
00404586
DNA
SEQ
-
-
2
Johan den Dunnen
0000405827
00404587
DNA
SEQ
-
-
2
Johan den Dunnen
0000405828
00404588
DNA
SEQ
-
-
2
Johan den Dunnen
0000405830
00404590
DNA
SEQ
-
-
1
Johan den Dunnen
0000405831
00404591
DNA
SEQ
-
-
1
Johan den Dunnen
0000405832
00404592
DNA
SEQ
-
-
1
Johan den Dunnen
0000405833
00404593
DNA
SEQ
-
-
1
Johan den Dunnen
0000405834
00404594
DNA
SEQ
-
-
1
Johan den Dunnen
0000405835
00404595
DNA
SEQ
-
-
1
Johan den Dunnen
0000405836
00404596
DNA
SEQ
-
-
1
Johan den Dunnen
0000405839
00404599
DNA
SEQ
-
-
2
Johan den Dunnen
0000405840
00404600
DNA
SEQ
-
-
1
Johan den Dunnen
0000405841
00404601
DNA
SEQ
-
-
1
Johan den Dunnen
0000405842
00404602
DNA
SEQ
-
-
1
Johan den Dunnen
0000405843
00404603
DNA
SEQ
-
-
2
Johan den Dunnen
0000405844
00404604
DNA
SEQ
-
-
1
Johan den Dunnen
0000405845
00404605
DNA
SEQ
-
-
1
Johan den Dunnen
0000405846
00404606
DNA
SEQ
-
-
1
Johan den Dunnen
0000405847
00404607
DNA
SEQ
-
-
1
Johan den Dunnen
0000405848
00404608
DNA
SEQ
-
-
2
Johan den Dunnen
0000405849
00404609
DNA
SEQ
-
-
2
Johan den Dunnen
0000405850
00404610
DNA
SEQ
-
-
1
Johan den Dunnen
0000405851
00404611
DNA
SEQ
-
-
2
Johan den Dunnen
0000405852
00404612
DNA
SEQ
-
-
1
Johan den Dunnen
0000405853
00404613
DNA
SEQ
-
-
1
Johan den Dunnen
0000405854
00404614
DNA
SEQ
-
-
1
Johan den Dunnen
0000405855
00404615
DNA
SEQ
-
-
1
Johan den Dunnen
0000405856
00404616
DNA
SEQ
-
-
1
Johan den Dunnen
0000405857
00404617
DNA
SEQ
-
-
3
Johan den Dunnen
0000405858
00404618
DNA
SEQ
-
-
1
Johan den Dunnen
0000405859
00404619
DNA
SEQ
-
-
1
Johan den Dunnen
0000405860
00404620
DNA
SEQ
-
-
1
Johan den Dunnen
0000405861
00404621
DNA
SEQ
-
-
1
Johan den Dunnen
0000405862
00404622
DNA
SEQ
-
-
1
Johan den Dunnen
0000405863
00404623
DNA
SEQ
-
-
1
Johan den Dunnen
0000405864
00404624
DNA
SEQ
-
-
1
Johan den Dunnen
0000405865
00404625
DNA
SEQ
-
-
1
Johan den Dunnen
0000405866
00404626
DNA
SEQ
-
-
1
Johan den Dunnen
0000405867
00404627
DNA
SEQ
-
-
2
Johan den Dunnen
0000405868
00404628
DNA
SEQ
-
-
2
Johan den Dunnen
0000405869
00404629
DNA
SEQ
-
-
1
Johan den Dunnen
0000405870
00404630
DNA
SEQ
-
-
1
Johan den Dunnen
0000405871
00404631
DNA
SEQ
-
-
1
Johan den Dunnen
0000405872
00404632
DNA
SEQ
-
-
1
Johan den Dunnen
0000405873
00404633
DNA
SEQ
-
-
1
Johan den Dunnen
0000405874
00404634
DNA
SEQ
-
-
1
Johan den Dunnen
0000405875
00404635
DNA
SEQ
-
-
1
Johan den Dunnen
0000405876
00404636
DNA
SEQ
-
-
2
Johan den Dunnen
0000405877
00404637
DNA
SEQ
-
-
2
Johan den Dunnen
0000405878
00404638
DNA
SEQ
-
-
1
Johan den Dunnen
0000405879
00404639
DNA
SEQ
-
-
1
Johan den Dunnen
0000405880
00404640
DNA
SEQ
-
-
1
Johan den Dunnen
0000405881
00404641
DNA
SEQ
-
-
1
Johan den Dunnen
0000405882
00404642
DNA
SEQ
-
-
1
Johan den Dunnen
0000405883
00404643
DNA
SEQ
-
-
2
Johan den Dunnen
0000405884
00404644
DNA
SEQ
-
-
2
Johan den Dunnen
0000405885
00404645
DNA
SEQ
-
-
1
Johan den Dunnen
0000405886
00404646
DNA
SEQ
-
-
1
Johan den Dunnen
0000405887
00404647
DNA
SEQ
-
-
2
Johan den Dunnen
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