Global Variome shared LOVD
HTT (huntingtin)
LOVD v.3.0 Build 29 [
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Curator:
Willeke M.C. van Roon-Mom
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All screenings for gene HTT
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.
73 entries on 1 page. Showing entries 1 - 73.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000079427
00079355
DNA
PCR;SEQ
-
-
4
Johan den Dunnen
0000079428
00079356
DNA
PCR;SEQ
-
-
4
Johan den Dunnen
0000079429
00079357
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000079430
00079358
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000079431
00079359
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000079432
00079360
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000079434
00079362
DNA
SEQ
-
-
1
Johan den Dunnen
0000079435
00079363
DNA
SEQ
-
-
1
Johan den Dunnen
0000079436
00079364
DNA
SEQ
-
-
1
Johan den Dunnen
0000079437
00079365
DNA
SEQ
-
-
1
Johan den Dunnen
0000081471
00081358
DNA
SEQ;arraySNP;PCR
-
-
126
Chris Kay
0000081472
00081359
DNA
SEQ;arraySNP;PCR
-
-
126
Chris Kay
0000081473
00081360
DNA
SEQ;arraySNP;PCR
-
-
122
Chris Kay
0000081474
00081361
DNA
SEQ;arraySNP;PCR
-
-
126
Chris Kay
0000081475
00081362
DNA
SEQ;arraySNP;PCR
-
-
126
Chris Kay
0000081476
00081363
DNA
SEQ;arraySNP;PCR
-
-
126
Chris Kay
0000081477
00081364
DNA
SEQ;arraySNP;PCR
-
-
139
Chris Kay
0000081478
00081365
DNA
SEQ;arraySNP;PCR
-
-
140
Chris Kay
0000081479
00081366
DNA
SEQ;arraySNP;PCR
-
-
122
Chris Kay
0000081480
00081367
DNA
SEQ;arraySNP;PCR
-
-
126
Chris Kay
0000081481
00081368
DNA
SEQ;arraySNP;PCR
-
-
126
Chris Kay
0000081482
00081369
DNA
SEQ;arraySNP;PCR
-
-
126
Chris Kay
0000081483
00081370
DNA
SEQ;arraySNP;PCR
-
-
126
Chris Kay
0000081484
00081371
DNA
SEQ;arraySNP;PCR
-
-
126
Chris Kay
0000081485
00081372
DNA
SEQ;arraySNP;PCR
-
-
122
Chris Kay
0000081486
00081373
DNA
SEQ;arraySNP;PCR
-
-
122
Chris Kay
0000081487
00081374
DNA
SEQ;arraySNP;PCR
-
-
126
Chris Kay
0000081488
00081375
DNA
SEQ;arraySNP;PCR
-
-
122
Chris Kay
0000081489
00081376
DNA
SEQ;arraySNP;PCR
-
-
136
Chris Kay
0000081490
00081377
DNA
SEQ;arraySNP;PCR
-
-
125
Chris Kay
0000081491
00081378
DNA
SEQ;arraySNP;PCR
-
-
125
Chris Kay
0000081492
00081379
DNA
SEQ;arraySNP;PCR
-
-
135
Chris Kay
0000081493
00081380
DNA
SEQ;arraySNP;PCR
-
-
126
Chris Kay
0000081494
00081381
DNA
SEQ;arraySNP;PCR
-
-
125
Chris Kay
0000081495
00081382
DNA
SEQ;arraySNP;PCR
-
-
126
Chris Kay
0000081496
00081383
DNA
SEQ;arraySNP;PCR
-
-
125
Chris Kay
0000081497
00081384
DNA
SEQ;arraySNP;PCR
-
-
125
Chris Kay
0000081498
00081385
DNA
SEQ;arraySNP;PCR
-
-
125
Chris Kay
0000081499
00081386
DNA
SEQ;arraySNP;PCR
-
-
125
Chris Kay
0000081500
00081387
DNA
SEQ;arraySNP;PCR
-
-
126
Chris Kay
0000081501
00081388
DNA
SEQ;arraySNP;PCR
-
-
125
Chris Kay
0000081502
00081389
DNA
SEQ;arraySNP;PCR
-
-
121
Chris Kay
0000081503
00081390
DNA
SEQ;arraySNP;PCR
-
-
125
Chris Kay
0000081504
00081391
DNA
SEQ;arraySNP;PCR
-
-
125
Chris Kay
0000081505
00081392
DNA
SEQ;arraySNP;PCR
-
-
118
Chris Kay
0000081506
00081393
DNA
SEQ;arraySNP;PCR
-
-
139
Chris Kay
0000081507
00081394
DNA
SEQ;arraySNP;PCR
-
-
125
Chris Kay
0000081508
00081395
DNA
SEQ;arraySNP;PCR
-
-
125
Chris Kay
0000081509
00081396
DNA
SEQ;arraySNP;PCR
-
-
138
Chris Kay
0000081510
00081397
DNA
SEQ;arraySNP;PCR
-
-
126
Chris Kay
0000081511
00081398
DNA
SEQ;arraySNP;PCR
-
-
125
Chris Kay
0000081512
00081399
DNA
SEQ;arraySNP;PCR
-
-
123
Chris Kay
0000081513
00081400
DNA
SEQ;arraySNP;PCR
-
-
135
Chris Kay
0000081514
00081401
DNA
SEQ;arraySNP;PCR
-
-
139
Chris Kay
0000081515
00081402
DNA
SEQ;arraySNP;PCR
-
-
126
Chris Kay
0000081516
00081403
DNA
SEQ;arraySNP;PCR
-
-
125
Chris Kay
0000081517
00081404
DNA
SEQ;arraySNP;PCR
-
-
125
Chris Kay
0000081518
00081405
DNA
SEQ;arraySNP;PCR
-
-
125
Chris Kay
0000081519
00081406
DNA
SEQ;arraySNP;PCR
-
-
125
Chris Kay
0000081520
00081407
DNA
SEQ;arraySNP;PCR
-
-
121
Chris Kay
0000081521
00081408
DNA
SEQ;arraySNP;PCR
-
-
124
Chris Kay
0000081522
00081409
DNA
SEQ;arraySNP;PCR
-
-
138
Chris Kay
0000081523
00081410
DNA
SEQ;arraySNP;PCR
-
-
140
Chris Kay
0000081524
00081411
DNA
SEQ;arraySNP;PCR
-
-
139
Chris Kay
0000081525
00081412
DNA
SEQ;arraySNP;PCR
-
-
139
Chris Kay
0000081526
00081413
DNA
SEQ;arraySNP;PCR
-
-
135
Chris Kay
0000081527
00081414
DNA
SEQ;arraySNP;PCR
-
-
139
Chris Kay
0000081528
00081415
DNA
SEQ;arraySNP;PCR
-
-
123
Chris Kay
0000081529
00081416
DNA
SEQ;arraySNP;PCR
-
-
121
Chris Kay
0000081530
00081417
DNA
SEQ;arraySNP;PCR
-
-
135
Chris Kay
0000081531
00081418
DNA
SEQ;arraySNP;PCR
-
-
139
Chris Kay
0000081532
00081419
DNA
SEQ;arraySNP;PCR
-
-
140
Chris Kay
0000381514
00380300
DNA
SEQ-NG
blood
autozygome-guided sequencing
1
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