NDDVD - Neurodegenerative Diseases Variation Database
PSEN2 (presenilin 2)
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Curator:
Y Yang
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View PSEN2 gene homepage
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View all transcripts of gene PSEN2
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View all variants affecting transcripts
View unique variants in gene PSEN2
View all variants in gene PSEN2
Full data view for gene PSEN2
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View all individuals with variants in gene PSEN2
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View all diseases
View all diseases associated with gene PSEN2
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View available phenotype columns
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View all screenings for gene PSEN2
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All screenings for gene PSEN2
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.
38 entries on 1 page. Showing entries 1 - 38.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Variants found
Owner
0000000199
00000199
?
?
1
Y Yang
0000000200
00000200
?
?
1
Y Yang
0000000201
00000201
?
?
1
Y Yang
0000000202
00000202
?
?
1
Y Yang
0000000203
00000203
?
?
1
Y Yang
0000000204
00000204
?
?
1
Y Yang
0000000205
00000205
?
?
1
Y Yang
0000000244
00000244
?
?
1
Y Yang
0000000245
00000245
?
?
1
Y Yang
0000000246
00000246
?
?
1
Y Yang
0000000247
00000247
?
?
1
Y Yang
0000000248
00000248
?
?
1
Y Yang
0000000322
00000322
?
?
1
Y Yang
0000000323
00000323
?
?
1
Y Yang
0000000324
00000324
?
?
1
Y Yang
0000000325
00000325
?
?
1
Y Yang
0000002213
00002213
?
?
1
Y Yang
0000004772
00004772
?
?
1
XY Liu
0000004773
00004773
?
?
1
XY Liu
0000004774
00004774
?
?
1
XY Liu
0000004780
00004780
?
?
1
XY Liu
0000004781
00004781
?
?
1
XY Liu
0000004782
00004782
?
?
1
XY Liu
0000004791
00004791
?
?
1
XY Liu
0000004838
00004838
?
?
1
XY Liu
0000004843
00004843
?
?
1
XY Liu
0000004844
00004844
?
?
1
XY Liu
0000004845
00004845
?
?
1
XY Liu
0000004883
00004883
?
?
1
XY Liu
0000004953
00004952
?
?
1
XY Liu
0000004954
00004953
?
?
1
XY Liu
0000004967
00004966
?
?
1
XY Liu
0000004968
00004967
?
?
1
XY Liu
0000004969
00004968
?
?
1
XY Liu
0000004970
00004969
?
?
1
XY Liu
0000004971
00004970
?
?
1
XY Liu
0000005021
00005018
?
?
1
XY Liu
0000005022
00005019
?
?
1
XY Liu
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