NDDVD - Neurodegenerative Diseases Variation Database
APP (amyloid beta (A4) precursor protein)
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Curator:
Y Yang
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All screenings for gene APP
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.
74 entries on 1 page. Showing entries 1 - 74.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Variants found
Owner
0000000092
00000092
?
?
1
Y Yang
0000000093
00000093
?
?
1
Y Yang
0000000094
00000094
?
?
1
Y Yang
0000000095
00000095
?
?
1
Y Yang
0000000096
00000096
?
?
1
Y Yang
0000000097
00000097
?
?
1
Y Yang
0000000098
00000098
?
?
1
Y Yang
0000000099
00000099
?
?
1
Y Yang
0000000100
00000100
?
?
1
Y Yang
0000000101
00000101
?
?
1
Y Yang
0000000102
00000102
?
?
1
Y Yang
0000000103
00000103
?
?
1
Y Yang
0000000104
00000104
?
?
1
Y Yang
0000000105
00000105
?
?
1
Y Yang
0000000106
00000106
?
?
1
Y Yang
0000000107
00000107
?
?
1
Y Yang
0000000108
00000108
?
?
1
Y Yang
0000000206
00000206
?
?
1
Y Yang
0000000207
00000207
?
?
1
Y Yang
0000000208
00000208
?
?
1
Y Yang
0000000209
00000209
?
?
1
Y Yang
0000000210
00000210
?
?
1
Y Yang
0000000249
00000249
?
?
1
Y Yang
0000000250
00000250
?
?
1
Y Yang
0000000251
00000251
?
?
1
Y Yang
0000000252
00000252
?
?
1
Y Yang
0000000253
00000253
?
?
1
Y Yang
0000000254
00000254
?
?
1
Y Yang
0000000255
00000255
?
?
1
Y Yang
0000000256
00000256
?
?
1
Y Yang
0000004769
00004769
?
?
1
XY Liu
0000004770
00004770
?
?
1
XY Liu
0000004775
00004775
?
?
1
XY Liu
0000004776
00004776
?
?
1
XY Liu
0000004777
00004777
?
?
1
XY Liu
0000004784
00004784
?
?
1
XY Liu
0000004787
00004787
?
?
1
XY Liu
0000004792
00004792
?
?
1
XY Liu
0000004793
00004793
?
?
1
XY Liu
0000004794
00004794
?
?
1
XY Liu
0000004809
00004809
?
?
1
XY Liu
0000004810
00004810
?
?
1
XY Liu
0000004811
00004811
?
?
1
XY Liu
0000004812
00004812
?
?
1
XY Liu
0000004813
00004813
?
?
1
XY Liu
0000004814
00004814
?
?
1
XY Liu
0000004815
00004815
?
?
1
XY Liu
0000004839
00004839
?
?
1
XY Liu
0000004846
00004846
?
?
1
XY Liu
0000004848
00004848
?
?
1
XY Liu
0000004851
00004851
?
?
1
XY Liu
0000004878
00004878
?
?
1
XY Liu
0000004879
00004879
?
?
1
XY Liu
0000004892
00004892
?
?
1
XY Liu
0000004896
00004896
?
?
1
XY Liu
0000004898
00004897
?
?
1
XY Liu
0000004899
00004898
?
?
1
XY Liu
0000004900
00004899
?
?
1
XY Liu
0000004901
00004900
?
?
1
XY Liu
0000004902
00004901
?
?
1
XY Liu
0000004943
00004942
?
?
1
XY Liu
0000004955
00004954
?
?
1
XY Liu
0000004956
00004955
?
?
1
XY Liu
0000004957
00004956
?
?
1
XY Liu
0000004958
00004957
?
?
1
XY Liu
0000004972
00004971
?
?
1
XY Liu
0000004973
00004972
?
?
1
XY Liu
0000004974
00004973
?
?
1
XY Liu
0000005004
00005003
?
?
1
XY Liu
0000005006
00005004
?
?
1
XY Liu
0000005014
00005011
?
?
1
XY Liu
0000005015
00005012
?
?
1
XY Liu
0000005016
00005013
?
?
1
XY Liu
0000005017
00005014
?
?
1
XY Liu
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