NDDVD - Neurodegenerative Diseases Variation Database
CLN6 (ceroid-lipofuscinosis, neuronal 6, late infan...)
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Curator:
Y Yang
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View CLN6 gene homepage
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View all transcripts of gene CLN6
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View all variants affecting transcripts
View unique variants in gene CLN6
View all variants in gene CLN6
Full data view for gene CLN6
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View all individuals with variants in gene CLN6
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View all diseases associated with gene CLN6
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View available phenotype columns
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View all screenings for gene CLN6
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All screenings for gene CLN6
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
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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.
63 entries on 1 page. Showing entries 1 - 63.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Variants found
Owner
0000002775
00002775
?
?
1
Y Yang
0000002776
00002776
?
?
1
Y Yang
0000002777
00002777
?
?
1
Y Yang
0000002778
00002778
?
?
1
Y Yang
0000002779
00002779
?
?
1
Y Yang
0000002780
00002780
?
?
1
Y Yang
0000002781
00002781
?
?
1
Y Yang
0000002782
00002782
?
?
1
Y Yang
0000002783
00002783
?
?
1
Y Yang
0000002784
00002784
?
?
1
Y Yang
0000002785
00002785
?
?
1
Y Yang
0000002786
00002786
?
?
1
Y Yang
0000002787
00002787
?
?
1
Y Yang
0000002788
00002788
?
?
1
Y Yang
0000002789
00002789
?
?
1
Y Yang
0000002790
00002790
?
?
1
Y Yang
0000002791
00002791
?
?
1
Y Yang
0000002792
00002792
?
?
1
Y Yang
0000002793
00002793
?
?
1
Y Yang
0000002794
00002794
?
?
1
Y Yang
0000002795
00002795
?
?
1
Y Yang
0000002796
00002796
?
?
1
Y Yang
0000002797
00002797
?
?
1
Y Yang
0000002798
00002798
?
?
1
Y Yang
0000002799
00002799
?
?
1
Y Yang
0000002800
00002800
?
?
1
Y Yang
0000002801
00002801
?
?
1
Y Yang
0000002802
00002802
?
?
1
Y Yang
0000002803
00002803
?
?
1
Y Yang
0000002804
00002804
?
?
1
Y Yang
0000002805
00002805
?
?
1
Y Yang
0000002806
00002806
?
?
1
Y Yang
0000002807
00002807
?
?
1
Y Yang
0000002808
00002808
?
?
1
Y Yang
0000002809
00002809
?
?
1
Y Yang
0000002810
00002810
?
?
1
Y Yang
0000002811
00002811
?
?
1
Y Yang
0000002812
00002812
?
?
1
Y Yang
0000002813
00002813
?
?
1
Y Yang
0000002814
00002814
?
?
1
Y Yang
0000002815
00002815
?
?
1
Y Yang
0000002816
00002816
?
?
1
Y Yang
0000002817
00002817
?
?
1
Y Yang
0000002818
00002818
?
?
1
Y Yang
0000002819
00002819
?
?
1
Y Yang
0000002929
00002929
?
?
1
Y Yang
0000002930
00002930
?
?
1
Y Yang
0000002931
00002931
?
?
1
Y Yang
0000002932
00002932
?
?
1
Y Yang
0000002933
00002933
?
?
1
Y Yang
0000002934
00002934
?
?
1
Y Yang
0000002935
00002935
?
?
1
Y Yang
0000002936
00002936
?
?
1
Y Yang
0000002937
00002937
?
?
1
Y Yang
0000002938
00002938
?
?
1
Y Yang
0000002939
00002939
?
?
1
Y Yang
0000002940
00002940
?
?
1
Y Yang
0000002941
00002941
?
?
1
Y Yang
0000002942
00002942
?
?
1
Y Yang
0000002943
00002943
?
?
1
Y Yang
0000002944
00002944
?
?
1
Y Yang
0000005732
00005716
?
?
1
XY Liu
0000005733
00005717
?
?
2
XY Liu
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