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 associated with gene TSC1
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View available phenotype columns
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View all screenings for gene TSC1
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All individuals with variants in 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.
Reference
: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Ethnic origin
: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
Remarks
: Remarks about the individual.
Variants in genes
: The individual has variants for this gene.
Panel size
: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.
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.
124 entries on 2 pages. Showing entries 1 - 100.
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Legend
How to query
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Individual ID
Reference
Ethnic origin
Remarks
Disease
Phenotype details
Variants
Panel size
Owner
00004411
-
-
-
TSC
-
1
1
Y Yang
00004412
-
-
-
TSC
-
1
1
Y Yang
00004413
-
-
-
TSC
-
1
1
Y Yang
00004414
-
-
-
TSC
-
1
1
Y Yang
00004415
-
-
-
TSC
-
1
1
Y Yang
00004416
-
-
-
TSC
-
1
1
Y Yang
00004417
-
-
-
TSC
-
1
1
Y Yang
00004418
-
-
-
TSC
-
1
1
Y Yang
00004419
-
-
-
TSC
-
1
1
Y Yang
00004420
-
-
-
TSC
-
1
1
Y Yang
00004421
-
-
-
TSC
-
1
1
Y Yang
00004422
-
-
-
TSC
-
1
1
Y Yang
00004423
-
-
-
TSC
-
1
1
Y Yang
00004424
-
-
-
TSC
-
1
1
Y Yang
00004425
-
-
-
TSC
-
1
1
Y Yang
00004426
-
-
-
TSC
-
1
1
Y Yang
00004427
-
-
-
TSC
-
1
1
Y Yang
00004428
-
-
-
TSC
-
1
1
Y Yang
00004429
-
-
-
TSC
-
1
1
Y Yang
00004430
-
-
-
TSC
-
1
1
Y Yang
00004431
-
-
-
TSC
-
1
1
Y Yang
00004432
-
-
-
TSC
-
1
1
Y Yang
00004433
-
-
-
TSC
-
1
1
Y Yang
00004434
-
-
-
TSC
-
1
1
Y Yang
00004435
-
-
-
TSC
-
1
1
Y Yang
00004436
-
-
-
TSC
-
1
1
Y Yang
00004437
-
-
-
TSC
-
1
1
Y Yang
00004438
-
-
-
TSC
-
1
1
Y Yang
00004439
-
-
-
TSC
-
1
1
Y Yang
00004440
-
-
-
TSC
-
1
1
Y Yang
00004441
-
-
-
TSC
-
1
1
Y Yang
00004442
-
-
-
TSC
-
1
1
Y Yang
00004443
-
-
-
TSC
-
1
1
Y Yang
00004444
-
-
-
TSC
-
1
1
Y Yang
00004445
-
-
-
TSC
-
1
1
Y Yang
00004446
-
-
-
TSC
-
1
1
Y Yang
00004447
-
-
-
TSC
-
1
1
Y Yang
00004448
-
-
-
TSC
-
1
1
Y Yang
00004449
-
-
-
TSC
-
1
1
Y Yang
00004450
-
-
-
TSC
-
1
1
Y Yang
00004451
-
-
-
TSC
-
1
1
Y Yang
00004452
-
-
-
TSC
-
1
1
Y Yang
00004453
-
-
-
TSC
-
1
1
Y Yang
00004454
-
-
-
TSC
-
1
1
Y Yang
00004455
-
-
-
TSC
-
1
1
Y Yang
00004456
-
-
-
TSC
-
1
1
Y Yang
00004457
-
-
-
TSC
-
1
1
Y Yang
00004458
-
-
-
TSC
-
1
1
Y Yang
00004459
-
-
-
TSC
-
1
1
Y Yang
00004460
-
-
-
TSC
-
1
1
Y Yang
00004461
-
-
-
TSC
-
1
1
Y Yang
00004462
-
-
-
TSC
-
1
1
Y Yang
00004463
-
-
-
TSC
-
1
1
Y Yang
00004464
-
-
-
TSC
-
1
1
Y Yang
00004465
-
-
-
TSC
-
1
1
Y Yang
00004466
-
-
-
TSC
-
1
1
Y Yang
00004467
-
-
-
TSC
-
1
1
Y Yang
00004468
-
-
-
TSC
-
1
1
Y Yang
00004469
-
-
-
TSC
-
1
1
Y Yang
00004470
-
-
-
TSC
-
1
1
Y Yang
00004471
-
-
-
TSC
-
1
1
Y Yang
00004472
-
-
-
TSC
-
1
1
Y Yang
00004473
-
-
-
TSC
-
1
1
Y Yang
00004474
-
-
-
TSC
-
1
1
Y Yang
00004475
-
-
-
TSC
-
1
1
Y Yang
00004476
-
-
-
TSC
-
1
1
Y Yang
00004477
-
-
-
TSC
-
1
1
Y Yang
00004478
-
-
-
TSC
-
1
1
Y Yang
00004479
-
-
-
TSC
-
1
1
Y Yang
00004480
-
-
-
TSC
-
1
1
Y Yang
00004481
-
-
-
TSC
-
1
1
Y Yang
00004482
-
-
-
TSC
-
1
1
Y Yang
00004483
-
-
-
TSC
-
1
1
Y Yang
00004484
-
-
-
TSC
-
1
1
Y Yang
00004485
-
-
-
TSC
-
1
1
Y Yang
00004486
-
-
-
TSC
-
1
1
Y Yang
00004487
-
-
-
TSC
-
1
1
Y Yang
00004488
-
-
-
TSC
-
1
1
Y Yang
00004489
-
-
-
TSC
-
1
1
Y Yang
00004490
-
-
-
TSC
-
1
1
Y Yang
00004491
-
-
-
TSC
-
1
1
Y Yang
00004492
-
-
-
TSC
-
1
1
Y Yang
00004493
-
-
-
TSC
-
1
1
Y Yang
00004494
-
-
-
TSC
-
1
1
Y Yang
00004495
-
-
-
TSC
-
1
1
Y Yang
00004496
-
-
-
TSC
-
1
1
Y Yang
00004497
-
-
-
TSC
-
1
1
Y Yang
00004498
-
-
-
TSC
-
1
1
Y Yang
00004499
-
-
-
TSC
-
1
1
Y Yang
00004500
-
-
-
TSC
-
1
1
Y Yang
00004501
-
-
-
TSC
-
1
1
Y Yang
00004502
-
-
-
TSC
-
1
1
Y Yang
00004503
-
-
-
TSC
-
1
1
Y Yang
00004504
-
-
-
TSC
-
1
1
Y Yang
00004505
-
-
-
TSC
-
1
1
Y Yang
00004506
-
-
-
TSC
-
1
1
Y Yang
00004507
-
-
-
TSC
-
1
1
Y Yang
00004508
-
-
-
TSC
-
1
1
Y Yang
00004509
-
-
-
TSC
-
1
1
Y Yang
00004510
-
-
-
TSC
-
1
1
Y Yang
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