Global Variome shared LOVD
TF (transferrin)
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Curator:
Global Variome, with Curator vacancy
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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
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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.
348 entries on 4 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000000001
00000001
DNA
SEQ-NG
-
-
34
Global Variome, with Curator vacancy
0000000003
00000003
DNA
SEQ-NG
-
-
15
Global Variome, with Curator vacancy
0000000004
00000004
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000005
00000005
DNA
SEQ-NG
-
-
12
Global Variome, with Curator vacancy
0000000008
00000008
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000009
00000009
DNA
SEQ-NG
-
-
18
Global Variome, with Curator vacancy
0000000010
00000010
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000012
00000012
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000014
00000014
DNA
SEQ-NG
-
-
22
Global Variome, with Curator vacancy
0000000015
00000015
DNA
SEQ-NG
-
-
11
Global Variome, with Curator vacancy
0000000020
00000020
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000021
00000021
DNA
SEQ-NG
-
-
7
Global Variome, with Curator vacancy
0000000022
00000022
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000024
00000024
DNA
SEQ-NG
-
-
15
Global Variome, with Curator vacancy
0000000025
00000025
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000026
00000026
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000027
00000027
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000031
00000031
DNA
SEQ-NG
-
-
17
Global Variome, with Curator vacancy
0000000033
00000033
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000034
00000034
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000035
00000035
DNA
SEQ-NG
-
-
17
Global Variome, with Curator vacancy
0000000036
00000036
DNA
SEQ-NG
-
-
9
Global Variome, with Curator vacancy
0000000037
00000037
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000039
00000039
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000041
00000041
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000042
00000042
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000044
00000044
DNA
SEQ-NG
-
-
12
Global Variome, with Curator vacancy
0000000047
00000047
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000048
00000048
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000049
00000049
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000050
00000050
DNA
SEQ-NG
-
-
9
Global Variome, with Curator vacancy
0000000051
00000051
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000052
00000052
DNA
SEQ-NG
-
-
5
Global Variome, with Curator vacancy
0000000053
00000053
DNA
SEQ-NG
-
-
11
Global Variome, with Curator vacancy
0000000054
00000054
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000055
00000055
DNA
SEQ-NG
-
-
12
Global Variome, with Curator vacancy
0000000056
00000056
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000057
00000057
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000061
00000061
DNA
SEQ-NG
-
-
11
Global Variome, with Curator vacancy
0000000062
00000062
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000063
00000063
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000064
00000064
DNA
SEQ-NG
-
-
12
Global Variome, with Curator vacancy
0000000065
00000065
DNA
SEQ-NG
-
-
9
Global Variome, with Curator vacancy
0000000067
00000067
DNA
SEQ-NG
-
-
18
Global Variome, with Curator vacancy
0000000068
00000068
DNA
SEQ-NG
-
-
18
Global Variome, with Curator vacancy
0000000069
00000069
DNA
SEQ-NG
-
-
17
Global Variome, with Curator vacancy
0000000070
00000070
DNA
SEQ-NG
-
-
10
Global Variome, with Curator vacancy
0000000071
00000071
DNA
SEQ-NG
-
-
12
Global Variome, with Curator vacancy
0000000072
00000072
DNA
SEQ-NG
-
-
17
Global Variome, with Curator vacancy
0000000073
00000073
DNA
SEQ-NG
-
-
9
Global Variome, with Curator vacancy
0000000075
00000075
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000077
00000077
DNA
SEQ-NG
-
-
10
Global Variome, with Curator vacancy
0000000078
00000078
DNA
SEQ-NG
-
-
12
Global Variome, with Curator vacancy
0000000081
00000081
DNA
SEQ-NG
-
-
11
Global Variome, with Curator vacancy
0000000082
00000082
DNA
SEQ-NG
-
-
11
Global Variome, with Curator vacancy
0000000083
00000083
DNA
SEQ-NG
-
-
9
Global Variome, with Curator vacancy
0000000085
00000085
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000086
00000086
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000087
00000087
DNA
SEQ-NG
-
-
11
Global Variome, with Curator vacancy
0000000088
00000088
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000089
00000089
DNA
SEQ-NG
-
-
9
Global Variome, with Curator vacancy
0000000092
00000092
DNA
SEQ-NG
-
-
8
Global Variome, with Curator vacancy
0000000094
00000094
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000096
00000096
DNA
SEQ-NG
-
-
11
Global Variome, with Curator vacancy
0000000097
00000097
DNA
SEQ-NG
-
-
6
Global Variome, with Curator vacancy
0000000099
00000099
DNA
SEQ-NG
-
-
10
Global Variome, with Curator vacancy
0000000100
00000100
DNA
SEQ-NG
-
-
12
Global Variome, with Curator vacancy
0000000101
00000101
DNA
SEQ-NG
-
-
6
Global Variome, with Curator vacancy
0000002925
00003019
DNA
SEQ
-
-
2
Marcel Nelen
0000016918
00016944
DNA
SEQ
blood
-
1
Andrey Marakhonov
0000016927
00016950
DNA
SEQ
blood
-
1
Andrey Marakhonov
0000016928
00016951
DNA
SEQ
blood
-
1
Andrey Marakhonov
0000017888
00017900
DNA
SEQ
-
-
1
Marianne Vos (LOVD-team)
0000017893
00017910
DNA
SEQ
-
-
1
Marianne Vos (LOVD-team)
0000017894
00017911
DNA
SEQ
-
-
1
Marianne Vos (LOVD-team)
0000017895
00017912
DNA
SEQ
-
-
1
Marianne Vos (LOVD-team)
0000017896
00017913
DNA
SEQ
-
-
1
Marianne Vos (LOVD-team)
0000017897
00017914
DNA
SEQ
-
-
1
Marianne Vos (LOVD-team)
0000017898
00017915
DNA
SEQ
-
-
1
Marianne Vos (LOVD-team)
0000017899
00017916
DNA
SEQ
-
-
1
Marianne Vos (LOVD-team)
0000017900
00017917
DNA
SEQ
-
-
1
Marianne Vos (LOVD-team)
0000017902
00017919
DNA
PCR;SEQ
-
-
1
Marianne Vos (LOVD-team)
0000017904
00017921
DNA
SEQ
-
-
1
Marianne Vos (LOVD-team)
0000017905
00017922
DNA
SEQ
-
-
2
Marianne Vos (LOVD-team)
0000017906
00017923
DNA
SEQ
-
-
1
Marianne Vos (LOVD-team)
0000019834
00019844
DNA
SEQ
Whole blood
-
3
Mayka Sanchez
0000019836
00019846
DNA
SEQ
Peripheral blood
-
1
Mayka Sanchez
0000019838
00019847
DNA
SEQ
Peripheral blood
-
1
Mayka Sanchez
0000019842
00019851
DNA
SEQ
Peripheral blood
-
2
Mayka Sanchez
0000019843
00019853
DNA
SEQ
Peripheral blood
-
1
Mayka Sanchez
0000019844
00019853
DNA
SEQ
Peripheral blood
-
1
Mayka Sanchez
0000019845
00019854
DNA
SEQ
Peripheral blood
-
1
Mayka Sanchez
0000019846
00019855
DNA
SEQ
Peripheral blood
-
2
Mayka Sanchez
0000019847
00019856
DNA
SEQ
Peripheral blood
-
2
Mayka Sanchez
0000024105
00024118
DNA
PCR;SEQ
-
-
4
Ann Walker
0000024218
00024226
DNA
SEQ
Blood
-
2
Giulia Ravasi
0000024219
00024227
DNA
SEQ
Blood
-
2
Giulia Ravasi
0000024221
00024229
DNA
SEQ
Blood
-
1
Giulia Ravasi
0000024960
00024958
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000024961
00024959
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
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