Global Variome shared LOVD
CBS (cystathionine-beta-synthase)
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Curator:
Global Variome, with Curator vacancy
View all genes
View CBS gene homepage
View graphs about the CBS gene database
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View all transcripts
View all transcripts of gene CBS
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View all variants
View all variants affecting transcripts
View unique variants in gene CBS
View all variants in gene CBS
Full data view for gene CBS
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View all individuals with variants in gene CBS
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View all diseases
View all diseases associated with gene CBS
Create a new disease information entry
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View all screenings for gene CBS
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All screenings for gene CBS
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
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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.
743 entries on 8 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
0000000021
00000021
DNA
SEQ-NG
-
-
7
Global Variome, with Curator vacancy
0000000022
00000022
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000023
00000023
DNA
SEQ-NG
-
-
16
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
0000000028
00000028
DNA
SEQ-NG
-
-
17
Global Variome, with Curator vacancy
0000000029
00000029
DNA
SEQ-NG
-
-
45
Global Variome, with Curator vacancy
0000000034
00000034
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000046676
00046568
DNA
PCR
blood
-
4
Klaus Huse
0000046678
00046569
DNA
PCR
Blood
-
4
Klaus Huse
0000047937
00047820
DNA
PCR
blood
-
4
Klaus Huse
0000047939
00047822
DNA
PCR
blood
-
2
Klaus Huse
0000047940
00047823
DNA
PCR
blood
-
2
Klaus Huse
0000047941
00047824
DNA
PCR
blood
-
1
Klaus Huse
0000047942
00047825
DNA
PCR
blood
-
2
Klaus Huse
0000047943
00047826
DNA
PCR
blood
-
2
Klaus Huse
0000047944
00047827
DNA
PCR
blood
-
1
Klaus Huse
0000047945
00047828
DNA
PCR
blood
-
2
Klaus Huse
0000047946
00047829
DNA
PCR
blood
-
2
Klaus Huse
0000047947
00047830
DNA
PCR
blood
-
2
Klaus Huse
0000047948
00047831
DNA
PCR
blood
-
2
Klaus Huse
0000047949
00047832
DNA
PCR
blood
-
1
Klaus Huse
0000047950
00047833
DNA
PCR
blood
-
2
Klaus Huse
0000047951
00047834
DNA
PCR
blood
-
2
Klaus Huse
0000047952
00047835
DNA
PCR
blood
-
1
Klaus Huse
0000047953
00047836
DNA
PCR
blood
-
2
Klaus Huse
0000047954
00047837
DNA
PCR
blood
-
1
Klaus Huse
0000047969
00047838
DNA
PCR
blood
-
1
Klaus Huse
0000047971
00047839
DNA
PCR
blood
-
2
Klaus Huse
0000047972
00047840
DNA
PCR
blood
-
2
Klaus Huse
0000047973
00047841
DNA
PCR
blood
-
2
Klaus Huse
0000047974
00047842
DNA
PCR
blood
-
1
Klaus Huse
0000047975
00047843
DNA
PCR
blood
-
2
Klaus Huse
0000047976
00047844
DNA
PCR
blood
-
2
Klaus Huse
0000047977
00047845
DNA
PCR
blood
-
1
Klaus Huse
0000047978
00047846
DNA
PCR
blood
-
2
Klaus Huse
0000081156
00081044
DNA
SEQ;SEQ-NG
-
-
1
Daniel Trujillano
0000181961
00181014
DNA
SEQ-NG-I
-
-
2
Belen Perez
0000262467
00261361
DNA
PCR;SEQ
-
-
1
Johan den Dunnen
0000262469
00261363
DNA
SEQ
-
-
1
Johan den Dunnen
0000262470
00261364
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000262471
00261365
DNA
SEQ
-
-
1
Johan den Dunnen
0000262472
00261366
DNA
SEQ
-
-
1
Johan den Dunnen
0000262473
00261367
DNA
SEQ
-
-
3
Johan den Dunnen
0000262474
00261368
DNA
SEQ
-
-
2
Johan den Dunnen
0000262475
00261369
DNA
SEQ
-
-
1
Johan den Dunnen
0000262476
00261370
DNA
SEQ
-
-
1
Johan den Dunnen
0000262477
00261371
DNA
SEQ
-
-
1
Johan den Dunnen
0000262478
00261372
DNA
SEQ
-
-
1
Johan den Dunnen
0000262479
00261373
DNA
SEQ
-
-
2
Johan den Dunnen
0000262480
00261374
DNA
SEQ
-
-
2
Johan den Dunnen
0000262481
00261375
DNA
SEQ
-
-
1
Johan den Dunnen
0000262482
00261376
DNA
SEQ
-
-
1
Johan den Dunnen
0000262483
00261377
DNA
SEQ
-
-
2
Johan den Dunnen
0000262484
00261378
DNA
SEQ
-
-
1
Johan den Dunnen
0000262485
00261379
DNA
SEQ
-
-
1
Johan den Dunnen
0000262486
00261380
DNA
SEQ
-
-
1
Johan den Dunnen
0000262487
00261381
DNA
SEQ
-
-
1
Johan den Dunnen
0000262488
00261382
DNA
SEQ
-
-
2
Johan den Dunnen
0000262489
00261383
DNA
SEQ
-
-
2
Johan den Dunnen
0000262490
00261384
DNA
SEQ
-
-
2
Johan den Dunnen
0000262491
00261385
DNA
SEQ
-
-
2
Johan den Dunnen
0000262492
00261386
DNA
SEQ
-
-
2
Johan den Dunnen
0000262493
00261387
DNA
SEQ
-
-
1
Johan den Dunnen
0000262494
00261388
DNA
SEQ
-
-
1
Johan den Dunnen
0000262495
00261389
DNA
SEQ
-
-
1
Johan den Dunnen
0000262496
00261390
DNA
SEQ
-
-
2
Johan den Dunnen
0000262497
00261391
DNA
SEQ
-
-
1
Johan den Dunnen
0000262498
00261392
DNA
SEQ
-
-
2
Johan den Dunnen
0000262499
00261393
DNA
SEQ
-
-
2
Johan den Dunnen
0000262500
00261394
DNA
SEQ
-
-
1
Johan den Dunnen
0000262501
00261395
DNA
SEQ
-
-
1
Johan den Dunnen
0000262502
00261396
DNA
SEQ
-
-
1
Johan den Dunnen
0000262503
00261397
DNA
SEQ
-
-
1
Johan den Dunnen
0000262504
00261398
DNA
SEQ
-
-
2
Johan den Dunnen
0000262505
00261399
DNA
SEQ
-
-
1
Johan den Dunnen
0000262506
00261400
DNA
SEQ
-
-
1
Johan den Dunnen
0000262507
00261401
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000262508
00261402
DNA
SEQ
-
-
1
Johan den Dunnen
0000262509
00261403
DNA
SEQ
-
-
1
Johan den Dunnen
0000262510
00261404
DNA
SEQ
-
-
1
Johan den Dunnen
0000262511
00261405
DNA
SEQ
-
-
2
Johan den Dunnen
0000262512
00261406
DNA
SEQ
-
-
1
Johan den Dunnen
0000262513
00261407
DNA
SEQ
-
-
1
Johan den Dunnen
0000262514
00261408
DNA
SEQ
-
-
1
Johan den Dunnen
0000262515
00261409
DNA
SEQ
-
-
1
Johan den Dunnen
0000262516
00261410
DNA
SEQ
-
-
1
Johan den Dunnen
0000262517
00261411
DNA
SEQ
-
-
1
Johan den Dunnen
0000262518
00261412
DNA
SEQ
-
-
1
Johan den Dunnen
0000262519
00261413
DNA
SEQ
-
-
1
Johan den Dunnen
0000262520
00261414
DNA
SEQ
-
-
2
Johan den Dunnen
0000262521
00261415
DNA
SEQ
-
-
1
Johan den Dunnen
0000262522
00261416
DNA
SEQ
-
-
1
Johan den Dunnen
0000262523
00261417
DNA
SEQ
-
-
1
Johan den Dunnen
0000262524
00261418
DNA
SEQ
-
-
2
Johan den Dunnen
0000262525
00261419
DNA
SEQ
-
-
1
Johan den Dunnen
0000262526
00261420
DNA
SEQ
-
-
2
Johan den Dunnen
0000262527
00261421
DNA
SEQ
-
-
1
Johan den Dunnen
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