NDDVD - Neurodegenerative Diseases Variation Database
TSC1 (tuberous sclerosis 1)
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Curator:
Y Yang
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View TSC1 gene homepage
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View all transcripts of gene TSC1
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View all variants affecting transcripts
View unique variants in gene TSC1
View all variants in gene TSC1
Full data view for gene TSC1
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View all individuals with variants in gene TSC1
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View all diseases
View all diseases associated with gene TSC1
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene TSC1
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All screenings for gene TSC1
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.
124 entries on 2 pages. Showing entries 1 - 100.
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Legend
How to query
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Screening ID
Individual ID
Template
Technique
Variants found
Owner
0000004411
00004411
?
?
1
Y Yang
0000004412
00004412
?
?
1
Y Yang
0000004413
00004413
?
?
1
Y Yang
0000004414
00004414
?
?
1
Y Yang
0000004415
00004415
?
?
1
Y Yang
0000004416
00004416
?
?
1
Y Yang
0000004417
00004417
?
?
1
Y Yang
0000004418
00004418
?
?
1
Y Yang
0000004419
00004419
?
?
1
Y Yang
0000004420
00004420
?
?
1
Y Yang
0000004421
00004421
?
?
1
Y Yang
0000004422
00004422
?
?
1
Y Yang
0000004423
00004423
?
?
1
Y Yang
0000004424
00004424
?
?
1
Y Yang
0000004425
00004425
?
?
1
Y Yang
0000004426
00004426
?
?
1
Y Yang
0000004427
00004427
?
?
1
Y Yang
0000004428
00004428
?
?
1
Y Yang
0000004429
00004429
?
?
1
Y Yang
0000004430
00004430
?
?
1
Y Yang
0000004431
00004431
?
?
1
Y Yang
0000004432
00004432
?
?
1
Y Yang
0000004433
00004433
?
?
1
Y Yang
0000004434
00004434
?
?
1
Y Yang
0000004435
00004435
?
?
1
Y Yang
0000004436
00004436
?
?
1
Y Yang
0000004437
00004437
?
?
1
Y Yang
0000004438
00004438
?
?
1
Y Yang
0000004439
00004439
?
?
1
Y Yang
0000004440
00004440
?
?
1
Y Yang
0000004441
00004441
?
?
1
Y Yang
0000004442
00004442
?
?
1
Y Yang
0000004443
00004443
?
?
1
Y Yang
0000004444
00004444
?
?
1
Y Yang
0000004445
00004445
?
?
1
Y Yang
0000004446
00004446
?
?
1
Y Yang
0000004447
00004447
?
?
1
Y Yang
0000004448
00004448
?
?
1
Y Yang
0000004449
00004449
?
?
1
Y Yang
0000004450
00004450
?
?
1
Y Yang
0000004451
00004451
?
?
1
Y Yang
0000004452
00004452
?
?
1
Y Yang
0000004453
00004453
?
?
1
Y Yang
0000004454
00004454
?
?
1
Y Yang
0000004455
00004455
?
?
1
Y Yang
0000004456
00004456
?
?
1
Y Yang
0000004457
00004457
?
?
1
Y Yang
0000004458
00004458
?
?
1
Y Yang
0000004459
00004459
?
?
1
Y Yang
0000004460
00004460
?
?
1
Y Yang
0000004461
00004461
?
?
1
Y Yang
0000004462
00004462
?
?
1
Y Yang
0000004463
00004463
?
?
1
Y Yang
0000004464
00004464
?
?
1
Y Yang
0000004465
00004465
?
?
1
Y Yang
0000004466
00004466
?
?
1
Y Yang
0000004467
00004467
?
?
1
Y Yang
0000004468
00004468
?
?
1
Y Yang
0000004469
00004469
?
?
1
Y Yang
0000004470
00004470
?
?
1
Y Yang
0000004471
00004471
?
?
1
Y Yang
0000004472
00004472
?
?
1
Y Yang
0000004473
00004473
?
?
1
Y Yang
0000004474
00004474
?
?
1
Y Yang
0000004475
00004475
?
?
1
Y Yang
0000004476
00004476
?
?
1
Y Yang
0000004477
00004477
?
?
1
Y Yang
0000004478
00004478
?
?
1
Y Yang
0000004479
00004479
?
?
1
Y Yang
0000004480
00004480
?
?
1
Y Yang
0000004481
00004481
?
?
1
Y Yang
0000004482
00004482
?
?
1
Y Yang
0000004483
00004483
?
?
1
Y Yang
0000004484
00004484
?
?
1
Y Yang
0000004485
00004485
?
?
1
Y Yang
0000004486
00004486
?
?
1
Y Yang
0000004487
00004487
?
?
1
Y Yang
0000004488
00004488
?
?
1
Y Yang
0000004489
00004489
?
?
1
Y Yang
0000004490
00004490
?
?
1
Y Yang
0000004491
00004491
?
?
1
Y Yang
0000004492
00004492
?
?
1
Y Yang
0000004493
00004493
?
?
1
Y Yang
0000004494
00004494
?
?
1
Y Yang
0000004495
00004495
?
?
1
Y Yang
0000004496
00004496
?
?
1
Y Yang
0000004497
00004497
?
?
1
Y Yang
0000004498
00004498
?
?
1
Y Yang
0000004499
00004499
?
?
1
Y Yang
0000004500
00004500
?
?
1
Y Yang
0000004501
00004501
?
?
1
Y Yang
0000004502
00004502
?
?
1
Y Yang
0000004503
00004503
?
?
1
Y Yang
0000004504
00004504
?
?
1
Y Yang
0000004505
00004505
?
?
1
Y Yang
0000004506
00004506
?
?
1
Y Yang
0000004507
00004507
?
?
1
Y Yang
0000004508
00004508
?
?
1
Y Yang
0000004509
00004509
?
?
1
Y Yang
0000004510
00004510
?
?
1
Y Yang
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