NDDVD - Neurodegenerative Diseases Variation Database
NF2 (neurofibromin 2 (merlin))
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Curator:
Y Yang
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View all transcripts of gene NF2
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View all variants affecting transcripts
View unique variants in gene NF2
View all variants in gene NF2
Full data view for gene NF2
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View all individuals with variants in gene NF2
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View all diseases associated with gene NF2
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All screenings for gene NF2
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.
107 entries on 2 pages. Showing entries 1 - 100.
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Legend
How to query
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Screening ID
Individual ID
Template
Technique
Variants found
Owner
0000002482
00002482
?
?
1
Y Yang
0000002483
00002483
?
?
1
Y Yang
0000002484
00002484
?
?
1
Y Yang
0000002485
00002485
?
?
1
Y Yang
0000002486
00002486
?
?
1
Y Yang
0000002487
00002487
?
?
1
Y Yang
0000002488
00002488
?
?
1
Y Yang
0000002489
00002489
?
?
1
Y Yang
0000002490
00002490
?
?
1
Y Yang
0000002491
00002491
?
?
1
Y Yang
0000002492
00002492
?
?
1
Y Yang
0000002493
00002493
?
?
1
Y Yang
0000002494
00002494
?
?
1
Y Yang
0000002495
00002495
?
?
1
Y Yang
0000002496
00002496
?
?
1
Y Yang
0000002497
00002497
?
?
1
Y Yang
0000002498
00002498
?
?
1
Y Yang
0000002499
00002499
?
?
1
Y Yang
0000002500
00002500
?
?
1
Y Yang
0000002501
00002501
?
?
1
Y Yang
0000002502
00002502
?
?
1
Y Yang
0000002503
00002503
?
?
1
Y Yang
0000002504
00002504
?
?
1
Y Yang
0000002505
00002505
?
?
1
Y Yang
0000002506
00002506
?
?
1
Y Yang
0000002507
00002507
?
?
1
Y Yang
0000002508
00002508
?
?
1
Y Yang
0000002509
00002509
?
?
1
Y Yang
0000002510
00002510
?
?
1
Y Yang
0000002511
00002511
?
?
1
Y Yang
0000002512
00002512
?
?
1
Y Yang
0000002513
00002513
?
?
1
Y Yang
0000002514
00002514
?
?
1
Y Yang
0000002515
00002515
?
?
1
Y Yang
0000002516
00002516
?
?
1
Y Yang
0000002517
00002517
?
?
1
Y Yang
0000002518
00002518
?
?
1
Y Yang
0000002519
00002519
?
?
1
Y Yang
0000002520
00002520
?
?
1
Y Yang
0000002521
00002521
?
?
1
Y Yang
0000002522
00002522
?
?
1
Y Yang
0000002523
00002523
?
?
1
Y Yang
0000002524
00002524
?
?
1
Y Yang
0000002525
00002525
?
?
1
Y Yang
0000002526
00002526
?
?
1
Y Yang
0000002527
00002527
?
?
1
Y Yang
0000002528
00002528
?
?
1
Y Yang
0000002529
00002529
?
?
1
Y Yang
0000002530
00002530
?
?
1
Y Yang
0000002531
00002531
?
?
1
Y Yang
0000002532
00002532
?
?
1
Y Yang
0000002533
00002533
?
?
1
Y Yang
0000002534
00002534
?
?
1
Y Yang
0000002535
00002535
?
?
1
Y Yang
0000002536
00002536
?
?
1
Y Yang
0000002537
00002537
?
?
1
Y Yang
0000002538
00002538
?
?
1
Y Yang
0000002539
00002539
?
?
1
Y Yang
0000002540
00002540
?
?
1
Y Yang
0000002541
00002541
?
?
1
Y Yang
0000002542
00002542
?
?
1
Y Yang
0000002543
00002543
?
?
1
Y Yang
0000002544
00002544
?
?
1
Y Yang
0000002545
00002545
?
?
1
Y Yang
0000002546
00002546
?
?
1
Y Yang
0000002547
00002547
?
?
1
Y Yang
0000002548
00002548
?
?
1
Y Yang
0000002549
00002549
?
?
1
Y Yang
0000002550
00002550
?
?
1
Y Yang
0000002551
00002551
?
?
1
Y Yang
0000002552
00002552
?
?
1
Y Yang
0000002553
00002553
?
?
1
Y Yang
0000002554
00002554
?
?
1
Y Yang
0000002555
00002555
?
?
1
Y Yang
0000002556
00002556
?
?
1
Y Yang
0000002557
00002557
?
?
1
Y Yang
0000002558
00002558
?
?
1
Y Yang
0000002559
00002559
?
?
1
Y Yang
0000002560
00002560
?
?
1
Y Yang
0000002561
00002561
?
?
1
Y Yang
0000002562
00002562
?
?
1
Y Yang
0000002563
00002563
?
?
1
Y Yang
0000002564
00002564
?
?
1
Y Yang
0000002565
00002565
?
?
1
Y Yang
0000002566
00002566
?
?
1
Y Yang
0000002567
00002567
?
?
1
Y Yang
0000002568
00002568
?
?
1
Y Yang
0000002569
00002569
?
?
1
Y Yang
0000002570
00002570
?
?
1
Y Yang
0000002571
00002571
?
?
1
Y Yang
0000005710
00005694
?
?
1
XY Liu
0000005711
00005695
?
?
1
XY Liu
0000005712
00005696
?
?
1
XY Liu
0000005713
00005697
?
?
1
XY Liu
0000005714
00005698
?
?
1
XY Liu
0000005715
00005699
?
?
1
XY Liu
0000005716
00005700
?
?
1
XY Liu
0000005717
00005701
?
?
1
XY Liu
0000005718
00005702
?
?
1
XY Liu
0000005719
00005703
?
?
1
XY Liu
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