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
View graphs about the CLN3 gene database
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View all transcripts
View all transcripts of gene CLN3
Create a new transcript information entry
View all variants
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 active genomic custom columns
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View all individuals
View all individuals with variants in gene CLN3
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View all diseases
View all diseases associated with gene CLN3
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene CLN3
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Enable more custom columns
Submit new data
All individuals with variants in 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.
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
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
Individual ID
Reference
Ethnic origin
Remarks
Disease
Phenotype details
Variants
Panel size
Owner
00002696
-
-
-
NCL
-
1
1
Y Yang
00002697
-
-
-
NCL
-
1
1
Y Yang
00002698
-
-
-
NCL
-
1
1
Y Yang
00002699
-
-
-
NCL
-
1
1
Y Yang
00002700
-
-
-
NCL
-
1
1
Y Yang
00002701
-
-
-
NCL
-
1
1
Y Yang
00002702
-
-
-
NCL
-
1
1
Y Yang
00002703
-
-
-
NCL
-
1
1
Y Yang
00002704
-
-
-
NCL
-
1
1
Y Yang
00002705
-
-
-
NCL
-
1
1
Y Yang
00002706
-
-
-
NCL
-
1
1
Y Yang
00002707
-
-
-
NCL
-
1
1
Y Yang
00002708
-
-
-
NCL
-
1
1
Y Yang
00002709
-
-
-
NCL
-
1
1
Y Yang
00002710
-
-
-
NCL
-
1
1
Y Yang
00002711
-
-
-
NCL
-
1
1
Y Yang
00002712
-
-
-
NCL
-
1
1
Y Yang
00002713
-
-
-
NCL
-
1
1
Y Yang
00002714
-
-
-
NCL
-
1
1
Y Yang
00002715
-
-
-
NCL
-
1
1
Y Yang
00002716
-
-
-
NCL
-
1
1
Y Yang
00002717
-
-
-
NCL
-
1
1
Y Yang
00002718
-
-
-
NCL
-
1
1
Y Yang
00002719
-
-
-
NCL
-
1
1
Y Yang
00002720
-
-
-
NCL
-
1
1
Y Yang
00002721
-
-
-
NCL
-
1
1
Y Yang
00002722
-
-
-
NCL
-
1
1
Y Yang
00002723
-
-
-
NCL
-
1
1
Y Yang
00002724
-
-
-
NCL
-
1
1
Y Yang
00002725
-
-
-
NCL
-
1
1
Y Yang
00002726
-
-
-
NCL
-
1
1
Y Yang
00002727
-
-
-
NCL
-
1
1
Y Yang
00002728
-
-
-
NCL
-
1
1
Y Yang
00002729
-
-
-
NCL
-
1
1
Y Yang
00002730
-
-
-
NCL
-
1
1
Y Yang
00002731
-
-
-
NCL
-
1
1
Y Yang
00002732
-
-
-
NCL
-
1
1
Y Yang
00002733
-
-
-
NCL
-
1
1
Y Yang
00002734
-
-
-
NCL
-
1
1
Y Yang
00002735
-
-
-
NCL
-
1
1
Y Yang
00002736
-
-
-
NCL
-
1
1
Y Yang
00002737
-
-
-
NCL
-
1
1
Y Yang
00002738
-
-
-
NCL
-
1
1
Y Yang
00002739
-
-
-
NCL
-
1
1
Y Yang
00002740
-
-
-
NCL
-
1
1
Y Yang
00002883
Kousi M1, Lehesjoki AE, Mole SE.(2012)
The Netherlands
-
NCL
-
1
1
Y Yang
00002884
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Germany, USA
-
NCL
-
1
1
Y Yang
00002885
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Belgium
-
NCL
-
1
1
Y Yang
00002886
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Turkey
-
NCL
-
1
1
Y Yang
00002887
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Germany
-
NCL
-
1
1
Y Yang
00002888
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Turkey
-
NCL
-
1
1
Y Yang
00002889
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Italy
-
NCL
-
1
1
Y Yang
00002890
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Canada
-
NCL
-
1
1
Y Yang
00002891
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Spain, The Netherlands
-
NCL
-
1
1
Y Yang
00002892
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Portugal
-
NCL
-
1
1
Y Yang
00002893
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Sweden, Norway, The Netherlands
-
NCL
-
1
1
Y Yang
00002894
Kousi M1, Lehesjoki AE, Mole SE.(2012)
UK
-
NCL
-
1
1
Y Yang
00002895
Kousi M1, Lehesjoki AE, Mole SE.(2012)
Italy
-
NCL
-
1
1
Y Yang
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Legend
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