Global Variome shared LOVD
CSTB (cystatin B (stefin B))
LOVD v.3.0 Build 28d [
Current LOVD status
]
Register as submitter
|
Log in
Curators:
Tarja Joensuu
and
Anna-Elina Lehesjoki
View all genes
View CSTB gene homepage
View graphs about the CSTB gene database
Create a new gene entry
View all transcripts
View all transcripts of gene CSTB
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene CSTB
View all variants in gene CSTB
Full data view for gene CSTB
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene CSTB
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene CSTB
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene CSTB
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
All screenings for gene CSTB
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
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.
68 entries on 1 page. Showing entries 1 - 68.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000035519
00035449
DNA
SEQ
-
-
1
Andreas Laner
0000035520
00035450
DNA
SEQ
-
-
1
Andreas Laner
0000035521
00035451
DNA
SEQ
-
-
1
Andreas Laner
0000035522
00035452
DNA
SEQ
-
-
1
Andreas Laner
0000087372
00087233
DNA
SEQ
-
-
1
Alan O'Brien
0000087375
00087236
DNA
SEQ
-
-
1
Alan O'Brien
0000092416
00092276
DNA
SEQ;SEQ-NG
-
-
1
Johan den Dunnen
0000406036
00404796
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000406037
00404797
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000406038
00404798
DNA
SEQ;SSCA
-
-
1
Johan den Dunnen
0000406039
00404799
DNA
SEQ;SSCA
-
-
2
Johan den Dunnen
0000406040
00404800
DNA
SEQ;SSCA
-
-
1
Johan den Dunnen
0000406041
00404801
DNA
SEQ;SSCA
-
-
1
Johan den Dunnen
0000406042
00404802
DNA
SEQ;SSCA
-
-
1
Johan den Dunnen
0000406043
00404803
DNA
SEQ;SSCA
-
-
1
Johan den Dunnen
0000406044
00404804
DNA
SEQ;SSCA
-
-
1
Johan den Dunnen
0000406045
00404805
DNA
SEQ;SSCA
-
-
1
Johan den Dunnen
0000406046
00404806
DNA
SEQ;SSCA
-
-
1
Johan den Dunnen
0000406047
00404807
DNA
SEQ;SSCA
-
-
1
Johan den Dunnen
0000406048
00404808
DNA
SEQ;SSCA
-
-
1
Johan den Dunnen
0000406055
00404815
DNA
SEQ;Southern;SSCA
-
-
2
Johan den Dunnen
0000406056
00404816
DNA
SEQ;Southern;SSCA
-
-
2
Johan den Dunnen
0000406057
00404817
DNA
SEQ;Southern;SSCA
-
-
2
Johan den Dunnen
0000406058
00404818
DNA
SEQ;Southern;SSCA
-
-
2
Johan den Dunnen
0000406059
00404819
DNA
SEQ;Southern;SSCA
-
-
2
Johan den Dunnen
0000406060
00404820
DNA
SEQ;Southern;SSCA
-
-
2
Johan den Dunnen
0000406061
00404821
DNA
SEQ;Southern;SSCA
-
-
2
Johan den Dunnen
0000406062
00404822
DNA
SEQ;Southern;SSCA
-
-
2
Johan den Dunnen
0000406063
00404823
DNA
SEQ;Southern;SSCA
-
-
2
Johan den Dunnen
0000406064
00404824
DNA
SEQ;Southern;SSCA
-
-
2
Johan den Dunnen
0000406065
00404825
DNA
SEQ;Southern;SSCA
-
-
2
Johan den Dunnen
0000406066
00404826
DNA
SEQ;Southern;SSCA
-
-
2
Johan den Dunnen
0000406067
00404827
DNA
SEQ;Southern;SSCA
-
-
2
Johan den Dunnen
0000406068
00404828
DNA
SEQ;Southern;SSCA
-
-
2
Johan den Dunnen
0000406069
00404829
DNA
SEQ;Southern;SSCA
-
-
2
Johan den Dunnen
0000406070
00404830
DNA
SEQ;Southern;SSCA
-
-
1
Johan den Dunnen
0000406071
00404831
DNA
SEQ;Southern;SSCA
-
-
1
Johan den Dunnen
0000406072
00404832
DNA
SEQ;Southern;SSCA
-
-
2
Johan den Dunnen
0000406073
00404833
DNA
SEQ;Southern;SSCA
-
-
2
Johan den Dunnen
0000406074
00404834
DNA
SEQ;Southern;SSCA
-
-
2
Johan den Dunnen
0000406075
00404835
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000406092
00404852
DNA
SEQ
-
-
2
Johan den Dunnen
0000406093
00404853
DNA
SEQ
-
-
2
Johan den Dunnen
0000406094
00404854
DNA
SEQ
-
-
1
Johan den Dunnen
0000406095
00404855
DNA
SEQ
-
-
1
Johan den Dunnen
0000406096
00404856
DNA
SEQ
-
-
1
Johan den Dunnen
0000406097
00404857
DNA
SEQ
-
-
1
Johan den Dunnen
0000406098
00404858
DNA
SEQ
-
-
1
Johan den Dunnen
0000406099
00404860
DNA
Southern
-
-
1
Johan den Dunnen
0000406101
00404861
DNA
SEQ
-
-
2
Johan den Dunnen
0000406102
00404862
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000406103
00404863
DNA
SEQ;Southern
-
-
2
Johan den Dunnen
0000406104
00404864
DNA
SEQ;Southern
-
-
1
Johan den Dunnen
0000406105
00404865
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000406113
00404874
DNA
SEQ;Southern
-
-
2
Johan den Dunnen
0000406114
00404875
DNA
SEQ;Southern
-
-
2
Johan den Dunnen
0000406115
00404876
DNA
SEQ;Southern
-
-
2
Johan den Dunnen
0000406116
00404877
DNA
SEQ;Southern
-
-
2
Johan den Dunnen
0000406117
00404878
DNA
SEQ;Southern
-
-
2
Johan den Dunnen
0000406118
00404879
DNA
SEQ;Southern
-
-
2
Johan den Dunnen
0000406119
00404880
DNA
SEQ;Southern
-
-
2
Johan den Dunnen
0000406120
00404881
DNA
SEQ;Southern
-
-
2
Johan den Dunnen
0000406121
00404882
DNA
SEQ;Southern
-
-
1
Johan den Dunnen
0000406123
00404884
DNA
SEQ;Southern
-
-
2
Johan den Dunnen
0000406124
00404885
DNA
SEQ;Southern
-
-
2
Johan den Dunnen
0000406125
00404886
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000406126
00404887
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000406127
00404888
DNA
Southern
-
-
3
Johan den Dunnen
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
Powered by
LOVD v.3.0
Build 28d
LOVD software ©2004-2023
Leiden University Medical Center