Global Variome shared LOVD
FH (fumarate hydratase)
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Curator:
Jean-Pierre Bayley
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All screenings for gene FH
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
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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.
482 entries on 5 pages. Showing entries 1 - 100.
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Legend
How to query
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000003035
00003120
DNA
SEQ
-
-
1
Johan den Dunnen
0000003036
00003121
DNA
SEQ
-
-
1
Lucy Raymond
0000003037
00003122
DNA
SEQ
-
-
1
Lucy Raymond
0000003038
00003123
DNA
SEQ
-
-
1
Lucy Raymond
0000003039
00003124
DNA
SEQ
-
-
1
Lucy Raymond
0000016536
00016584
DNA
SEQ
-
-
3
Marianne Vos (LOVD-team)
0000019850
00019859
DNA
SEQ
-
-
4
Marianne Vos (LOVD-team)
0000033229
00033161
DNA
SEQ;SEQ-NG-S
-
-
8
Kornelia Neveling
0000035889
00035819
DNA
SEQ
-
-
1
Andreas Laner
0000035890
00035820
DNA
SEQ
-
-
1
Andreas Laner
0000035891
00035821
DNA
SEQ
-
-
1
Andreas Laner
0000035892
00035822
DNA
SEQ
-
-
1
Andreas Laner
0000035893
00035823
DNA
SEQ
-
-
1
Andreas Laner
0000035894
00035824
DNA
SEQ
-
-
1
Andreas Laner
0000035895
00035825
DNA
SEQ
-
-
1
Andreas Laner
0000035896
00035826
DNA
SEQ
-
-
1
Andreas Laner
0000072724
00072567
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072725
00072568
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072726
00072569
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072727
00072570
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072728
00072571
DNA
DHPLC;SEQ
-
-
1
Jean-Pierre Bayley
0000072729
00072572
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072730
00072573
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072731
00072574
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072732
00072575
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072733
00072576
RNA
SEQ;SSCA
-
-
1
Jean-Pierre Bayley
0000072734
00072577
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072735
00072578
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072736
00072579
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072737
00072580
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072738
00072581
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072739
00072582
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072740
00072583
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072741
00072584
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072742
00072585
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072743
00072586
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072744
00072587
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072745
00072588
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072746
00072589
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072747
00072590
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072748
00072591
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072749
00072592
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072750
00072593
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072751
00072594
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072752
00072595
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072753
00072596
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072754
00072597
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072755
00072598
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072756
00072599
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072757
00072600
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072758
00072601
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072759
00072602
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072760
00072603
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072761
00072604
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072762
00072605
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072763
00072606
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072764
00072607
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072765
00072608
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072766
00072609
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072767
00072610
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072768
00072611
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072769
00072612
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072770
00072613
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072771
00072614
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072772
00072615
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072773
00072616
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072774
00072617
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072775
00072618
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072776
00072619
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072777
00072620
DNA
DHPLC;SEQ
-
-
1
Jean-Pierre Bayley
0000072778
00072621
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072779
00072622
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072780
00072623
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072781
00072624
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072782
00072625
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072783
00072626
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072784
00072627
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072785
00072628
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072786
00072629
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072787
00072630
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072788
00072631
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072789
00072632
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072790
00072633
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072791
00072634
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072792
00072635
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072793
00072636
RNA
SEQ;SSCA
-
-
1
Jean-Pierre Bayley
0000072794
00072637
RNA
SEQ;SSCA
-
-
1
Jean-Pierre Bayley
0000072795
00072638
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072796
00072639
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072797
00072640
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072798
00072641
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072799
00072642
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072800
00072643
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072801
00072644
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072802
00072645
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072803
00072646
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072804
00072647
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072805
00072648
RNA;DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072806
00072649
DNA
SEQ;SSCA;CSGE
-
-
1
Jean-Pierre Bayley
0000072807
00072650
DNA
SEQ
-
-
1
Jean-Pierre Bayley
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