NDDVD - Neurodegenerative Diseases Variation Database
CLN3 (ceroid-lipofuscinosis, neuronal 3)
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Curator:
Y Yang
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View CLN3 gene homepage
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View all transcripts of gene CLN3
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View all variants affecting transcripts
View unique variants in gene CLN3
View all variants in gene CLN3
Full data view for gene CLN3
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View all individuals with variants in gene CLN3
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View all diseases associated with gene CLN3
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View available phenotype columns
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View all screenings for gene CLN3
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All screenings for gene CLN3
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.
58 entries on 1 page. Showing entries 1 - 58.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Variants found
Owner
0000002696
00002696
?
?
1
Y Yang
0000002697
00002697
?
?
1
Y Yang
0000002698
00002698
?
?
1
Y Yang
0000002699
00002699
?
?
1
Y Yang
0000002700
00002700
?
?
1
Y Yang
0000002701
00002701
?
?
1
Y Yang
0000002702
00002702
?
?
1
Y Yang
0000002703
00002703
?
?
1
Y Yang
0000002704
00002704
?
?
1
Y Yang
0000002705
00002705
?
?
1
Y Yang
0000002706
00002706
?
?
1
Y Yang
0000002707
00002707
?
?
1
Y Yang
0000002708
00002708
?
?
1
Y Yang
0000002709
00002709
?
?
1
Y Yang
0000002710
00002710
?
?
1
Y Yang
0000002711
00002711
?
?
1
Y Yang
0000002712
00002712
?
?
1
Y Yang
0000002713
00002713
?
?
1
Y Yang
0000002714
00002714
?
?
1
Y Yang
0000002715
00002715
?
?
1
Y Yang
0000002716
00002716
?
?
1
Y Yang
0000002717
00002717
?
?
1
Y Yang
0000002718
00002718
?
?
1
Y Yang
0000002719
00002719
?
?
1
Y Yang
0000002720
00002720
?
?
1
Y Yang
0000002721
00002721
?
?
1
Y Yang
0000002722
00002722
?
?
1
Y Yang
0000002723
00002723
?
?
1
Y Yang
0000002724
00002724
?
?
1
Y Yang
0000002725
00002725
?
?
1
Y Yang
0000002726
00002726
?
?
1
Y Yang
0000002727
00002727
?
?
1
Y Yang
0000002728
00002728
?
?
1
Y Yang
0000002729
00002729
?
?
1
Y Yang
0000002730
00002730
?
?
1
Y Yang
0000002731
00002731
?
?
1
Y Yang
0000002732
00002732
?
?
1
Y Yang
0000002733
00002733
?
?
1
Y Yang
0000002734
00002734
?
?
1
Y Yang
0000002735
00002735
?
?
1
Y Yang
0000002736
00002736
?
?
1
Y Yang
0000002737
00002737
?
?
1
Y Yang
0000002738
00002738
?
?
1
Y Yang
0000002739
00002739
?
?
1
Y Yang
0000002740
00002740
?
?
1
Y Yang
0000002883
00002883
?
?
1
Y Yang
0000002884
00002884
?
?
1
Y Yang
0000002885
00002885
?
?
1
Y Yang
0000002886
00002886
?
?
1
Y Yang
0000002887
00002887
?
?
1
Y Yang
0000002888
00002888
?
?
1
Y Yang
0000002889
00002889
?
?
1
Y Yang
0000002890
00002890
?
?
1
Y Yang
0000002891
00002891
?
?
1
Y Yang
0000002892
00002892
?
?
1
Y Yang
0000002893
00002893
?
?
1
Y Yang
0000002894
00002894
?
?
1
Y Yang
0000002895
00002895
?
?
1
Y Yang
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