Global Variome shared LOVD
NF1 (neurofibromin 1)
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Curator:
Rick van Minkelen
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All screenings for gene NF1
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 (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
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)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = singele molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
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.
8843 entries on 89 pages. Showing entries 1 - 100.
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How to query
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000016896
00016860
DNA
SEQ-NG-I
skin, tumor
-
6
Denise Emmerich
0000019712
00019726
DNA
SEQ-NG
lymphocytes
-
1
Jair Antonio Tenorio
0000019713
00019727
DNA
arraySNP
lymphocytes
-
1
Jair Antonio Tenorio
0000019714
00019728
DNA
SEQ-NG
lymphocytes
-
1
Jair Antonio Tenorio
0000019715
00019729
DNA
SEQ-NG
lymphocytes
-
1
Jair Antonio Tenorio
0000019896
00019904
DNA
SEQ
Peripheral blood
-
1
Alessandro De Luca
0000019934
00019941
DNA
SEQ
Peripheral blood
-
1
Alessandro De Luca
0000019935
00019942
DNA
SEQ
Peripheral blood
-
1
Alessandro De Luca
0000019936
00019943
DNA
SEQ
Peripheral blood
-
1
Alessandro De Luca
0000019937
00019944
DNA
SEQ
Peripheral blood
-
1
Alessandro De Luca
0000019938
00019945
DNA
SEQ
Peripheral blood
-
1
Alessandro De Luca
0000019939
00019946
DNA
SEQ
Peripheral blood
-
1
Alessandro De Luca
0000019940
00019947
DNA
SEQ
Peripheral blood
-
1
Alessandro De Luca
0000019941
00019948
DNA
SEQ
Peripheral blood
-
1
Alessandro De Luca
0000024234
00024240
DNA
SEQ;SEQ-NG
-
-
1
Johan den Dunnen
0000047997
00047871
DNA
SEQ
-
-
2
James Whitworth
0000047998
00047872
DNA
SEQ
-
-
2
James Whitworth
0000048185
00048060
DNA
SEQ-NG
-
-
2
James Whitworth
0000050296
00050351
DNA
SEQ;SEQ-NG-I
-
-
2
Johan den Dunnen
0000050647
00050702
DNA
SEQ;SEQ-NG-I
-
-
1
Johan den Dunnen
0000064430
00064297
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064431
00064298
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064432
00064299
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064433
00064300
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064434
00064301
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064435
00064302
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064436
00064303
RNA
SEQ
Blood
-
Not yet submitted
Glenda Beaman
0000064437
00064304
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064438
00064305
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064439
00064306
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064440
00064307
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064441
00064308
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064442
00064309
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064443
00064310
RNA
SEQ
Blood
-
Not yet submitted
Glenda Beaman
0000064444
00064311
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064445
00064312
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064446
00064313
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064447
00064314
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064448
00064315
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064449
00064316
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064450
00064317
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064451
00064318
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064452
00064319
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064453
00064320
RNA
SEQ
Blood
-
2
Glenda Beaman
0000064454
00064321
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064455
00064322
RNA
SEQ
Blood
-
2
Glenda Beaman
0000064456
00064323
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064457
00064324
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064458
00064325
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064459
00064326
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064460
00064327
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064461
00064328
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064462
00064329
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064463
00064330
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064464
00064331
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064465
00064332
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064466
00064333
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064467
00064334
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064468
00064335
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064469
00064336
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064470
00064337
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064471
00064338
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064472
00064339
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064473
00064340
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064474
00064341
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064475
00064342
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064476
00064343
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064477
00064344
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064478
00064345
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064479
00064346
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064480
00064347
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064481
00064348
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064482
00064349
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064483
00064350
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064484
00064351
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064485
00064352
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064486
00064353
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064487
00064354
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064488
00064355
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064489
00064356
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064490
00064357
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064491
00064358
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064492
00064359
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064493
00064360
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064494
00064361
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064495
00064362
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064496
00064363
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064497
00064364
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064498
00064365
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064499
00064366
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064500
00064367
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064501
00064368
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064502
00064369
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064503
00064370
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064504
00064371
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064505
00064372
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064506
00064373
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064507
00064374
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064508
00064375
RNA
SEQ
Blood
-
1
Glenda Beaman
0000064509
00064376
RNA
SEQ
Blood
-
1
Glenda Beaman
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