NDDVD - Neurodegenerative Diseases Variation Database
CLCN1 (chloride channel, voltage-sensitive 1)
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Curator:
Y Yang
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View all transcripts of gene CLCN1
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View all variants affecting transcripts
View unique variants in gene CLCN1
View all variants in gene CLCN1
Full data view for gene CLCN1
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View all individuals with variants in gene CLCN1
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View all diseases associated with gene CLCN1
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View available phenotype columns
View all screenings
View all screenings for gene CLCN1
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All screenings for gene CLCN1
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.
107 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
0000002380
00002380
?
?
1
Y Yang
0000002381
00002381
?
?
1
Y Yang
0000002382
00002382
?
?
1
Y Yang
0000002383
00002383
?
?
1
Y Yang
0000002384
00002384
?
?
1
Y Yang
0000002385
00002385
?
?
1
Y Yang
0000002386
00002386
?
?
1
Y Yang
0000002387
00002387
?
?
1
Y Yang
0000002388
00002388
?
?
1
Y Yang
0000002389
00002389
?
?
1
Y Yang
0000002390
00002390
?
?
1
Y Yang
0000002391
00002391
?
?
1
Y Yang
0000002392
00002392
?
?
1
Y Yang
0000002393
00002393
?
?
1
Y Yang
0000002394
00002394
?
?
1
Y Yang
0000002395
00002395
?
?
1
Y Yang
0000002396
00002396
?
?
1
Y Yang
0000002397
00002397
?
?
1
Y Yang
0000002398
00002398
?
?
1
Y Yang
0000002399
00002399
?
?
1
Y Yang
0000002400
00002400
?
?
1
Y Yang
0000002401
00002401
?
?
1
Y Yang
0000002402
00002402
?
?
1
Y Yang
0000002403
00002403
?
?
1
Y Yang
0000002404
00002404
?
?
1
Y Yang
0000002405
00002405
?
?
1
Y Yang
0000002406
00002406
?
?
1
Y Yang
0000002407
00002407
?
?
1
Y Yang
0000002408
00002408
?
?
1
Y Yang
0000002409
00002409
?
?
1
Y Yang
0000002410
00002410
?
?
1
Y Yang
0000002411
00002411
?
?
1
Y Yang
0000002412
00002412
?
?
1
Y Yang
0000002413
00002413
?
?
1
Y Yang
0000002414
00002414
?
?
1
Y Yang
0000002415
00002415
?
?
1
Y Yang
0000002416
00002416
?
?
1
Y Yang
0000002417
00002417
?
?
1
Y Yang
0000002418
00002418
?
?
1
Y Yang
0000002419
00002419
?
?
1
Y Yang
0000002420
00002420
?
?
1
Y Yang
0000002421
00002421
?
?
1
Y Yang
0000002422
00002422
?
?
1
Y Yang
0000002423
00002423
?
?
1
Y Yang
0000002424
00002424
?
?
1
Y Yang
0000002425
00002425
?
?
1
Y Yang
0000002426
00002426
?
?
1
Y Yang
0000002427
00002427
?
?
1
Y Yang
0000002428
00002428
?
?
1
Y Yang
0000002429
00002429
?
?
1
Y Yang
0000002430
00002430
?
?
1
Y Yang
0000002431
00002431
?
?
1
Y Yang
0000002432
00002432
?
?
1
Y Yang
0000002433
00002433
?
?
1
Y Yang
0000002434
00002434
?
?
1
Y Yang
0000002435
00002435
?
?
1
Y Yang
0000002436
00002436
?
?
1
Y Yang
0000002437
00002437
?
?
1
Y Yang
0000002438
00002438
?
?
1
Y Yang
0000002439
00002439
?
?
1
Y Yang
0000002440
00002440
?
?
1
Y Yang
0000002441
00002441
?
?
1
Y Yang
0000002442
00002442
?
?
1
Y Yang
0000002443
00002443
?
?
1
Y Yang
0000002444
00002444
?
?
1
Y Yang
0000002445
00002445
?
?
1
Y Yang
0000002446
00002446
?
?
1
Y Yang
0000002447
00002447
?
?
1
Y Yang
0000002448
00002448
?
?
1
Y Yang
0000002449
00002449
?
?
1
Y Yang
0000002450
00002450
?
?
1
Y Yang
0000002451
00002451
?
?
1
Y Yang
0000002452
00002452
?
?
1
Y Yang
0000002453
00002453
?
?
1
Y Yang
0000002454
00002454
?
?
1
Y Yang
0000002455
00002455
?
?
1
Y Yang
0000002456
00002456
?
?
1
Y Yang
0000002460
00002460
?
?
1
Y Yang
0000002461
00002461
?
?
1
Y Yang
0000002462
00002462
?
?
1
Y Yang
0000002463
00002463
?
?
1
Y Yang
0000002464
00002464
?
?
1
Y Yang
0000002465
00002465
?
?
1
Y Yang
0000002466
00002466
?
?
1
Y Yang
0000002467
00002467
?
?
1
Y Yang
0000002468
00002468
?
?
1
Y Yang
0000002469
00002469
?
?
1
Y Yang
0000002470
00002470
?
?
1
Y Yang
0000002471
00002471
?
?
1
Y Yang
0000002472
00002472
?
?
1
Y Yang
0000002473
00002473
?
?
1
Y Yang
0000002474
00002474
?
?
1
Y Yang
0000002475
00002475
?
?
1
Y Yang
0000002478
00002478
?
?
1
Y Yang
0000002479
00002479
?
?
1
Y Yang
0000002480
00002480
?
?
1
Y Yang
0000005652
00005638
?
?
2
XY Liu
0000005653
00005639
?
?
1
XY Liu
0000005654
00005640
?
?
1
XY Liu
0000005655
00005641
?
?
2
XY Liu
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