Global Variome shared LOVD
BTD (biotinidase)
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Curator:
Global Variome, with Curator vacancy
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All screenings for gene BTD
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-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.
202 entries on 3 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000000010
00000010
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000021
00000021
DNA
SEQ-NG
-
-
7
Global Variome, with Curator vacancy
0000000028
00000028
DNA
SEQ-NG
-
-
17
Global Variome, with Curator vacancy
0000000056
00000056
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000061
00000061
DNA
SEQ-NG
-
-
11
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
0000000089
00000089
DNA
SEQ-NG
-
-
9
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
0000000107
00000107
DNA
SEQ-NG
-
-
15
Global Variome, with Curator vacancy
0000106415
00105944
DNA
SEQ
-
-
2
Jasper Saris
0000106416
00105945
DNA
SEQ
-
-
1
Jasper Saris
0000106417
00105946
DNA
SEQ
-
-
2
Jasper Saris
0000106418
00105947
DNA
SEQ
-
-
1
Jasper Saris
0000106419
00105948
DNA
SEQ
-
-
1
Jasper Saris
0000106420
00105949
DNA
SEQ
-
-
1
Jasper Saris
0000106421
00105950
DNA
SEQ
-
-
2
Jasper Saris
0000106422
00105951
DNA
SEQ
-
-
1
Jasper Saris
0000106423
00105952
DNA
SEQ
-
-
2
Jasper Saris
0000106424
00105953
DNA
SEQ
-
-
2
Jasper Saris
0000106425
00105954
DNA
SEQ
-
-
2
Jasper Saris
0000106426
00105955
DNA
SEQ
-
-
2
Jasper Saris
0000106427
00105956
DNA
SEQ
-
-
1
Jasper Saris
0000106428
00105957
DNA
SEQ
-
-
1
Jasper Saris
0000106429
00105958
DNA
SEQ
-
-
1
Jasper Saris
0000106430
00105959
DNA
SEQ
-
-
2
Jasper Saris
0000106431
00105960
DNA
SEQ
-
-
3
Jasper Saris
0000106432
00105961
DNA
SEQ
-
-
1
Jasper Saris
0000106433
00105962
DNA
SEQ
-
-
1
Jasper Saris
0000106434
00105963
DNA
SEQ
-
-
1
Jasper Saris
0000106435
00105964
DNA
SEQ
-
-
1
Jasper Saris
0000106436
00105965
DNA
SEQ
-
-
7
Jasper Saris
0000106437
00105966
DNA
SEQ
-
-
1
Jasper Saris
0000106438
00105967
DNA
SEQ
-
-
1
Jasper Saris
0000106439
00105968
DNA
SEQ
-
-
1
Jasper Saris
0000106440
00105969
DNA
SEQ
-
-
1
Jasper Saris
0000106441
00105970
DNA
SEQ
-
-
1
Jasper Saris
0000106442
00105971
DNA
SEQ
-
-
1
Jasper Saris
0000106443
00105972
DNA
SEQ
-
-
1
Jasper Saris
0000106444
00105973
DNA
SEQ
-
-
1
Jasper Saris
0000106445
00105974
DNA
SEQ
-
-
1
Jasper Saris
0000106446
00105975
DNA
SEQ
-
-
1
Jasper Saris
0000106447
00105976
DNA
SEQ
-
-
1
Jasper Saris
0000106448
00105977
DNA
SEQ
-
-
1
Jasper Saris
0000106449
00105978
DNA
SEQ
-
-
1
Jasper Saris
0000106450
00105979
DNA
SEQ
-
-
1
Jasper Saris
0000106451
00105980
DNA
SEQ
-
-
1
Jasper Saris
0000106452
00105981
DNA
SEQ
-
-
1
Jasper Saris
0000106453
00105982
DNA
SEQ
-
-
1
Jasper Saris
0000106454
00105983
DNA
SEQ
-
-
1
Jasper Saris
0000106455
00105984
DNA
SEQ
-
-
1
Jasper Saris
0000106456
00105985
DNA
SEQ
-
-
1
Jasper Saris
0000106457
00105986
DNA
SEQ
-
-
1
Jasper Saris
0000106458
00105987
DNA
SEQ
-
-
1
Jasper Saris
0000106459
00105988
DNA
SEQ
-
-
1
Jasper Saris
0000106460
00105989
DNA
SEQ
-
-
1
Jasper Saris
0000106461
00105990
DNA
SEQ
-
-
1
Jasper Saris
0000106462
00105991
DNA
SEQ
-
-
1
Jasper Saris
0000106463
00105992
DNA
SEQ
-
-
1
Jasper Saris
0000106464
00105993
DNA
SEQ
-
-
1
Jasper Saris
0000106465
00105994
DNA
SEQ
-
-
1
Jasper Saris
0000106466
00105995
DNA
SEQ
-
-
1
Jasper Saris
0000106467
00105996
DNA
SEQ
-
-
1
Jasper Saris
0000106468
00105997
DNA
SEQ
-
-
1
Jasper Saris
0000106469
00105998
DNA
SEQ
-
-
1
Jasper Saris
0000106470
00105999
DNA
SEQ
-
-
1
Jasper Saris
0000106471
00106000
DNA
SEQ
-
-
1
Jasper Saris
0000106472
00106001
DNA
SEQ
-
-
1
Jasper Saris
0000106473
00106002
DNA
SEQ
-
-
1
Jasper Saris
0000106474
00106003
DNA
SEQ
-
-
1
Jasper Saris
0000106475
00106004
DNA
SEQ
-
-
1
Jasper Saris
0000106476
00106005
DNA
SEQ
-
-
1
Jasper Saris
0000106477
00106006
DNA
SEQ
-
-
1
Jasper Saris
0000106478
00106007
DNA
SEQ
-
-
1
Jasper Saris
0000106479
00106008
DNA
SEQ
-
-
1
Jasper Saris
0000106480
00106009
DNA
SEQ
-
-
1
Jasper Saris
0000106481
00106010
DNA
SEQ
-
-
1
Jasper Saris
0000106482
00106011
DNA
SEQ
-
-
1
Jasper Saris
0000106483
00106012
DNA
SEQ
-
-
1
Jasper Saris
0000106484
00106013
DNA
SEQ
-
-
1
Jasper Saris
0000106485
00106014
DNA
SEQ
-
-
1
Jasper Saris
0000106486
00106015
DNA
SEQ
-
-
1
Jasper Saris
0000106487
00106016
DNA
SEQ
-
-
1
Jasper Saris
0000106488
00106017
DNA
SEQ
-
-
1
Jasper Saris
0000106489
00106018
DNA
SEQ
-
-
1
Jasper Saris
0000106490
00106019
DNA
SEQ
-
-
1
Jasper Saris
0000106491
00106020
DNA
SEQ
-
-
1
Jasper Saris
0000106492
00106021
DNA
SEQ
-
-
1
Jasper Saris
0000106493
00106022
DNA
SEQ
-
-
1
Jasper Saris
0000106494
00106023
DNA
SEQ
-
-
1
Jasper Saris
0000106495
00106024
DNA
SEQ
-
-
1
Jasper Saris
0000106496
00106025
DNA
SEQ
-
-
1
Jasper Saris
0000106497
00106026
DNA
SEQ
-
-
1
Jasper Saris
0000106498
00106027
DNA
SEQ
-
-
1
Jasper Saris
0000106499
00106028
DNA
SEQ
-
-
1
Jasper Saris
0000106500
00106029
DNA
SEQ
-
-
1
Jasper Saris
0000106501
00106030
DNA
SEQ
-
-
1
Jasper Saris
0000106502
00106031
DNA
SEQ
-
-
1
Jasper Saris
0000106503
00106032
DNA
SEQ
-
-
1
Jasper Saris
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