Global Variome shared LOVD
HGSNAT (heparan-alpha-glucosaminide N-acetyltransfe...)
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Curator:
Alexey Pshezhetsky
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All screenings for gene HGSNAT
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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.
162 entries on 2 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000000007
00000007
DNA
SEQ-NG
-
-
9
Global Variome, with Curator vacancy
0000000008
00000008
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000012
00000012
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000044
00000044
DNA
SEQ-NG
-
-
12
Global Variome, with Curator vacancy
0000000068
00000068
DNA
SEQ-NG
-
-
18
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
0000112694
00112236
DNA
SEQ
-
-
1
Stéphanie Durand
0000112695
00112237
DNA
SEQ
-
-
1
Stéphanie Durand
0000112696
00112238
DNA
SEQ
-
-
2
Stéphanie Durand
0000112697
00112239
DNA
SEQ
-
-
2
Stéphanie Durand
0000112698
00112240
DNA
SEQ
-
-
2
Stéphanie Durand
0000112699
00112241
DNA
SEQ
-
-
2
Stéphanie Durand
0000112700
00112242
DNA
SEQ
-
-
2
Stéphanie Durand
0000112701
00112243
DNA
SEQ
-
-
2
Stéphanie Durand
0000112702
00112244
DNA
SEQ
-
-
1
Stéphanie Durand
0000112703
00112245
DNA
SEQ
-
-
1
Stéphanie Durand
0000112704
00112246
DNA
SEQ
-
-
2
Stéphanie Durand
0000112705
00112247
DNA
SEQ
-
-
2
Stéphanie Durand
0000112706
00112248
DNA
SEQ
-
-
2
Stéphanie Durand
0000112707
00112249
DNA
SEQ
-
-
2
Stéphanie Durand
0000112708
00112250
DNA
SEQ
-
-
1
Stéphanie Durand
0000112709
00112251
DNA
SEQ
-
-
2
Stéphanie Durand
0000112710
00112252
DNA
SEQ
-
-
2
Stéphanie Durand
0000112711
00112253
DNA
SEQ
-
-
2
Stéphanie Durand
0000112712
00112254
DNA
SEQ
-
-
2
Stéphanie Durand
0000112713
00112255
DNA
SEQ
-
-
1
Stéphanie Durand
0000112714
00112256
DNA
SEQ
-
-
2
Stéphanie Durand
0000112715
00112257
DNA
SEQ
-
-
1
Stéphanie Durand
0000112716
00112258
DNA
SEQ
-
-
1
Stéphanie Durand
0000112717
00112259
DNA
SEQ
-
-
2
Stéphanie Durand
0000112718
00112260
DNA
SEQ
-
-
1
Stéphanie Durand
0000112719
00112261
DNA
SEQ
-
-
1
Stéphanie Durand
0000112720
00112262
DNA
SEQ
-
-
1
Stéphanie Durand
0000112721
00112263
DNA
SEQ
-
-
2
Stéphanie Durand
0000112722
00112264
DNA
SEQ
-
-
2
Stéphanie Durand
0000112723
00112265
DNA
SEQ
-
-
1
Stéphanie Durand
0000112724
00112266
DNA
SEQ
-
-
2
Stéphanie Durand
0000112725
00112267
DNA
SEQ
-
-
1
Stéphanie Durand
0000112726
00112268
DNA
SEQ
-
-
1
Stéphanie Durand
0000112727
00112269
DNA
SEQ
-
-
2
Stéphanie Durand
0000112728
00112270
DNA
SEQ
-
-
1
Stéphanie Durand
0000112729
00112271
DNA
SEQ
-
-
2
Stéphanie Durand
0000112730
00112272
DNA
SEQ
-
-
1
Stéphanie Durand
0000112731
00112273
DNA
SEQ
-
-
1
Stéphanie Durand
0000112732
00112274
DNA
SEQ
-
-
1
Stéphanie Durand
0000112733
00112275
DNA
SEQ
-
-
1
Stéphanie Durand
0000112734
00112276
DNA
SEQ
-
-
1
Stéphanie Durand
0000112735
00112277
DNA
SEQ
-
-
1
Stéphanie Durand
0000112736
00112278
DNA
SEQ
-
-
2
Stéphanie Durand
0000112737
00112279
DNA
SEQ
-
-
1
Stéphanie Durand
0000112738
00112280
DNA
SEQ
-
-
2
Stéphanie Durand
0000112739
00112281
DNA
SEQ
-
-
1
Stéphanie Durand
0000112740
00112282
DNA
SEQ
-
-
2
Stéphanie Durand
0000112741
00112283
DNA
SEQ
-
-
2
Stéphanie Durand
0000112742
00112284
DNA
SEQ
-
-
2
Stéphanie Durand
0000112743
00112285
DNA
SEQ
-
-
2
Stéphanie Durand
0000112744
00112286
DNA
SEQ
-
-
1
Stéphanie Durand
0000112745
00112287
DNA
SEQ
-
-
2
Stéphanie Durand
0000112746
00112288
DNA
SEQ
-
-
2
Stéphanie Durand
0000112747
00112289
DNA
SEQ
-
-
2
Stéphanie Durand
0000112748
00112290
DNA
SEQ
-
-
2
Stéphanie Durand
0000112749
00112291
DNA
SEQ
-
-
2
Stéphanie Durand
0000112750
00112292
DNA
SEQ
-
-
2
Stéphanie Durand
0000112751
00112293
DNA
SEQ
-
-
1
Stéphanie Durand
0000112752
00112294
DNA
SEQ
-
-
1
Stéphanie Durand
0000112753
00112295
DNA
SEQ
-
-
1
Stéphanie Durand
0000112754
00112296
DNA
SEQ
-
-
1
Stéphanie Durand
0000112755
00112297
DNA
SEQ
-
-
1
Stéphanie Durand
0000112756
00112298
DNA
SEQ
-
-
2
Stéphanie Durand
0000112757
00112299
DNA
SEQ
-
-
2
Stéphanie Durand
0000112758
00112300
DNA
SEQ
-
-
2
Stéphanie Durand
0000112759
00112301
DNA
SEQ
-
-
1
Stéphanie Durand
0000112760
00112302
DNA
SEQ
-
-
1
Stéphanie Durand
0000112761
00112303
DNA
SEQ
-
-
2
Stéphanie Durand
0000112762
00112304
DNA
SEQ
-
-
1
Stéphanie Durand
0000112763
00112305
DNA
SEQ
-
-
2
Stéphanie Durand
0000112764
00112306
DNA
SEQ
-
-
2
Stéphanie Durand
0000112765
00112307
DNA
SEQ
-
-
2
Stéphanie Durand
0000112766
00112308
DNA
SEQ
-
-
1
Stéphanie Durand
0000112767
00112309
DNA
SEQ
-
-
2
Stéphanie Durand
0000112768
00112310
DNA
SEQ
-
-
2
Stéphanie Durand
0000112769
00112311
DNA
SEQ
-
-
3
Stéphanie Durand
0000112770
00112312
DNA
SEQ
-
-
1
Stéphanie Durand
0000112771
00112313
DNA
SEQ
-
-
1
Stéphanie Durand
0000112772
00112314
DNA
SEQ
-
-
1
Stéphanie Durand
0000112773
00112315
DNA
SEQ
-
-
1
Stéphanie Durand
0000112774
00112316
DNA
SEQ
-
-
1
Stéphanie Durand
0000112775
00112317
DNA
SEQ
-
-
1
Stéphanie Durand
0000112776
00112318
DNA
SEQ
-
-
1
Stéphanie Durand
0000112777
00112319
DNA
SEQ
-
-
1
Stéphanie Durand
0000156343
00155478
DNA
SEQ
-
-
1
Dror Sharon
0000227230
00226154
DNA
SEQ
-
-
1
Carla Martins
0000227294
00226218
DNA
SEQ
-
-
1
Carla Martins
0000227295
00226219
DNA
SEQ
-
-
1
Carla Martins
0000227296
00226220
DNA
SEQ
-
-
2
Carla Martins
0000227297
00226221
DNA
SEQ
-
-
1
Carla Martins
0000227298
00226222
DNA
SEQ
-
-
2
Carla Martins
0000227300
00226224
DNA;RNA
RT-PCR;SEQ
-
-
1
Carla Martins
0000227301
00226225
DNA
SEQ
-
-
1
Carla Martins
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