NDDVD - Neurodegenerative Diseases Variation Database
TSC2 (tuberous sclerosis 2)
LOVD v.3.0 Build 29 [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Y Yang
View all genes
View TSC2 gene homepage
View graphs about the TSC2 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene TSC2
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene TSC2
View all variants in gene TSC2
Full data view for gene TSC2
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 TSC2
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene TSC2
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene TSC2
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
All screenings for gene TSC2
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 = RNA (cDNA).
All options:
DNA
RNA = RNA (cDNA)
Protein
? = unknown
Technique
: Technique(s) used to identify the sequence variant.
All options:
? = Unknown
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)
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
CSCE = Conformation Sensitive Capillary Electrophoresis
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
ddF = dideoxy Fingerprinting
DSCA = Double-Strand DNA Conformation Analysis
EMC = Enzymatic Mismatch Cleavage
HD = HeteroDuplex analysis
MCA = high-resolution Melting Curve Analysis (hrMCA)
IHC = Immuno-Histo-Chemistry
MAPH = Multiplex Amplifiable Probe Hybridisation
MLPA = Multiplex Ligation-dependent Probe Amplification
SEQ-NG = Next-Generation Sequencing
SEQ-NG-H = Next-Generation Sequencing - Helicos
SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
SEQ-NG-R = Next-Generation Sequencing - Roche/454
SEQ-NG-S = Next-Generation Sequencing - SOLiD
Northern = Northern blotting
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRq = PCR, quantitative
PAGE = Poly-Acrylamide Gel-Electrophoresis
PTT = Protein Truncation Test
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
RT-PCR = Reverse Transcription and PCR
SEQ = SEQuencing
SBE = Single Base Extension
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = SSCA, fluorescent (SSCP)
Southern = Southern blotting
TaqMan = TaqMan assay
Western = Western Blotting
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.
259 entries on 3 pages. Showing entries 1 - 100.
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
« First
Prev
1
2
3
Next
Last »
Screening ID
Individual ID
Template
Technique
Variants found
Owner
0000004525
00004525
?
?
1
Y Yang
0000004526
00004526
?
?
1
Y Yang
0000004527
00004527
?
?
1
Y Yang
0000004528
00004528
?
?
1
Y Yang
0000004529
00004529
?
?
1
Y Yang
0000004530
00004530
?
?
1
Y Yang
0000004531
00004531
?
?
1
Y Yang
0000004532
00004532
?
?
1
Y Yang
0000004533
00004533
?
?
1
Y Yang
0000004534
00004534
?
?
1
Y Yang
0000004535
00004535
?
?
1
Y Yang
0000004536
00004536
?
?
1
Y Yang
0000004537
00004537
?
?
1
Y Yang
0000004538
00004538
?
?
1
Y Yang
0000004539
00004539
?
?
1
Y Yang
0000004540
00004540
?
?
1
Y Yang
0000004541
00004541
?
?
1
Y Yang
0000004542
00004542
?
?
1
Y Yang
0000004543
00004543
?
?
1
Y Yang
0000004544
00004544
?
?
1
Y Yang
0000004545
00004545
?
?
1
Y Yang
0000004546
00004546
?
?
1
Y Yang
0000004547
00004547
?
?
1
Y Yang
0000004548
00004548
?
?
1
Y Yang
0000004549
00004549
?
?
1
Y Yang
0000004550
00004550
?
?
1
Y Yang
0000004551
00004551
?
?
1
Y Yang
0000004552
00004552
?
?
1
Y Yang
0000004553
00004553
?
?
1
Y Yang
0000004554
00004554
?
?
1
Y Yang
0000004555
00004555
?
?
1
Y Yang
0000004556
00004556
?
?
1
Y Yang
0000004557
00004557
?
?
1
Y Yang
0000004558
00004558
?
?
1
Y Yang
0000004559
00004559
?
?
1
Y Yang
0000004560
00004560
?
?
1
Y Yang
0000004561
00004561
?
?
1
Y Yang
0000004562
00004562
?
?
1
Y Yang
0000004563
00004563
?
?
1
Y Yang
0000004564
00004564
?
?
1
Y Yang
0000004565
00004565
?
?
1
Y Yang
0000004566
00004566
?
?
1
Y Yang
0000004567
00004567
?
?
1
Y Yang
0000004568
00004568
?
?
1
Y Yang
0000004569
00004569
?
?
1
Y Yang
0000004570
00004570
?
?
1
Y Yang
0000004571
00004571
?
?
1
Y Yang
0000004572
00004572
?
?
1
Y Yang
0000004573
00004573
?
?
1
Y Yang
0000004574
00004574
?
?
1
Y Yang
0000004575
00004575
?
?
1
Y Yang
0000004576
00004576
?
?
1
Y Yang
0000004577
00004577
?
?
1
Y Yang
0000004578
00004578
?
?
1
Y Yang
0000004579
00004579
?
?
1
Y Yang
0000004580
00004580
?
?
1
Y Yang
0000004581
00004581
?
?
1
Y Yang
0000004582
00004582
?
?
1
Y Yang
0000004583
00004583
?
?
1
Y Yang
0000004584
00004584
?
?
1
Y Yang
0000004585
00004585
?
?
1
Y Yang
0000004586
00004586
?
?
1
Y Yang
0000004587
00004587
?
?
1
Y Yang
0000004588
00004588
?
?
1
Y Yang
0000004589
00004589
?
?
1
Y Yang
0000004590
00004590
?
?
1
Y Yang
0000004591
00004591
?
?
1
Y Yang
0000004592
00004592
?
?
1
Y Yang
0000004593
00004593
?
?
1
Y Yang
0000004594
00004594
?
?
1
Y Yang
0000004595
00004595
?
?
1
Y Yang
0000004596
00004596
?
?
1
Y Yang
0000004597
00004597
?
?
1
Y Yang
0000004598
00004598
?
?
1
Y Yang
0000004599
00004599
?
?
1
Y Yang
0000004600
00004600
?
?
1
Y Yang
0000004601
00004601
?
?
1
Y Yang
0000004602
00004602
?
?
1
Y Yang
0000004603
00004603
?
?
1
Y Yang
0000004604
00004604
?
?
1
Y Yang
0000004605
00004605
?
?
1
Y Yang
0000004606
00004606
?
?
1
Y Yang
0000004607
00004607
?
?
1
Y Yang
0000004608
00004608
?
?
1
Y Yang
0000004609
00004609
?
?
1
Y Yang
0000004610
00004610
?
?
1
Y Yang
0000004611
00004611
?
?
1
Y Yang
0000004612
00004612
?
?
1
Y Yang
0000004613
00004613
?
?
1
Y Yang
0000004614
00004614
?
?
1
Y Yang
0000004615
00004615
?
?
1
Y Yang
0000004616
00004616
?
?
1
Y Yang
0000004617
00004617
?
?
1
Y Yang
0000004618
00004618
?
?
1
Y Yang
0000004619
00004619
?
?
1
Y Yang
0000004620
00004620
?
?
1
Y Yang
0000004621
00004621
?
?
1
Y Yang
0000004622
00004622
?
?
1
Y Yang
0000004623
00004623
?
?
1
Y Yang
0000004624
00004624
?
?
1
Y Yang
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
« First
Prev
1
2
3
Next
Last »
Powered by
LOVD v.3.0
Build 29
LOVD software ©2004-2023
Leiden University Medical Center