Global Variome shared LOVD
FBN1 (fibrillin 1)
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Curator:
Kristina Lagerstedt Robinson
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All screenings for gene FBN1
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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.
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!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
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=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
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!=""
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'
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323 entries on 4 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000002942
00003035
DNA
PCR;SEQ
-
-
1
Yulia Rogozhina
0000002943
00003031
DNA
PCR;SEQ
-
-
1
Yulia Rogozhina
0000003963
00004042
DNA
PCR;SEQ
-
-
1
Yulia Rogozhina
0000035804
00035734
DNA
SEQ
-
-
1
Andreas Laner
0000035805
00035735
DNA
SEQ
-
-
1
Andreas Laner
0000035806
00035736
DNA
SEQ
-
-
1
Andreas Laner
0000035807
00035737
DNA
SEQ
-
-
1
Andreas Laner
0000035808
00035738
DNA
SEQ
-
-
1
Andreas Laner
0000035809
00035739
DNA
SEQ
-
-
1
Andreas Laner
0000035810
00035740
DNA
SEQ
-
-
1
Andreas Laner
0000035811
00035741
DNA
SEQ
-
-
1
Andreas Laner
0000035812
00035742
DNA
SEQ
-
-
1
Andreas Laner
0000035813
00035743
DNA
SEQ
-
-
1
Andreas Laner
0000035814
00035744
DNA
SEQ
-
-
1
Andreas Laner
0000035815
00035745
DNA
SEQ
-
-
1
Andreas Laner
0000035816
00035746
DNA
SEQ
-
-
1
Andreas Laner
0000035817
00035747
DNA
SEQ
-
-
1
Andreas Laner
0000035818
00035748
DNA
SEQ
-
-
1
Andreas Laner
0000035819
00035749
DNA
SEQ
-
-
1
Andreas Laner
0000035820
00035750
DNA
SEQ
-
-
1
Andreas Laner
0000035821
00035751
DNA
SEQ
-
-
1
Andreas Laner
0000035822
00035752
DNA
SEQ
-
-
1
Andreas Laner
0000035823
00035753
DNA
SEQ
-
-
1
Andreas Laner
0000035824
00035754
DNA
SEQ
-
-
1
Andreas Laner
0000035825
00035755
DNA
SEQ
-
-
1
Andreas Laner
0000035826
00035756
DNA
SEQ
-
-
1
Andreas Laner
0000035827
00035757
DNA
SEQ
-
-
1
Andreas Laner
0000035828
00035758
DNA
SEQ
-
-
1
Andreas Laner
0000035829
00035759
DNA
SEQ
-
-
1
Andreas Laner
0000035830
00035760
DNA
SEQ
-
-
1
Andreas Laner
0000035831
00035761
DNA
SEQ
-
-
1
Andreas Laner
0000035832
00035762
DNA
SEQ
-
-
1
Andreas Laner
0000035833
00035763
DNA
SEQ
-
-
1
Andreas Laner
0000035834
00035764
DNA
SEQ
-
-
1
Andreas Laner
0000035835
00035765
DNA
SEQ
-
-
1
Andreas Laner
0000035836
00035766
DNA
SEQ
-
-
1
Andreas Laner
0000035837
00035767
DNA
SEQ
-
-
1
Andreas Laner
0000035838
00035768
DNA
SEQ
-
-
1
Andreas Laner
0000035839
00035769
DNA
SEQ
-
-
1
Andreas Laner
0000035840
00035770
DNA
SEQ
-
-
1
Andreas Laner
0000035841
00035771
DNA
SEQ
-
-
1
Andreas Laner
0000035842
00035772
DNA
SEQ
-
-
1
Andreas Laner
0000035843
00035773
DNA
SEQ
-
-
1
Andreas Laner
0000035844
00035774
DNA
SEQ
-
-
1
Andreas Laner
0000035845
00035775
DNA
SEQ
-
-
1
Andreas Laner
0000035846
00035776
DNA
SEQ
-
-
1
Andreas Laner
0000035847
00035777
DNA
SEQ
-
-
1
Andreas Laner
0000035848
00035778
DNA
SEQ
-
-
1
Andreas Laner
0000035849
00035779
DNA
SEQ
-
-
1
Andreas Laner
0000035850
00035780
DNA
SEQ
-
-
1
Andreas Laner
0000035851
00035781
DNA
SEQ
-
-
1
Andreas Laner
0000035852
00035782
DNA
SEQ
-
-
1
Andreas Laner
0000035853
00035783
DNA
SEQ
-
-
1
Andreas Laner
0000035854
00035784
DNA
SEQ
-
-
1
Andreas Laner
0000035855
00035785
DNA
SEQ
-
-
1
Andreas Laner
0000035856
00035786
DNA
SEQ
-
-
1
Andreas Laner
0000035857
00035787
DNA
SEQ
-
-
1
Andreas Laner
0000035858
00035788
DNA
SEQ
-
-
1
Andreas Laner
0000035859
00035789
DNA
SEQ
-
-
1
Andreas Laner
0000035860
00035790
DNA
SEQ
-
-
1
Andreas Laner
0000035861
00035791
DNA
SEQ
-
-
1
Andreas Laner
0000035862
00035792
DNA
SEQ
-
-
1
Andreas Laner
0000035863
00035793
DNA
SEQ
-
-
1
Andreas Laner
0000035864
00035794
DNA
SEQ
-
-
1
Andreas Laner
0000035865
00035795
DNA
SEQ
-
-
1
Andreas Laner
0000035866
00035796
DNA
SEQ
-
-
1
Andreas Laner
0000035867
00035797
DNA
SEQ
-
-
1
Andreas Laner
0000035868
00035798
DNA
SEQ
-
-
1
Andreas Laner
0000035869
00035799
DNA
SEQ
-
-
1
Andreas Laner
0000035870
00035800
DNA
SEQ
-
-
1
Andreas Laner
0000050441
00050496
DNA
SEQ;SEQ-NG-I
-
-
1
Johan den Dunnen
0000053009
00053061
DNA
SEQ
-
-
1
Johan den Dunnen
0000053010
00053063
DNA
SEQ
-
-
1
Johan den Dunnen
0000053011
00053064
DNA
SEQ
-
-
1
Johan den Dunnen
0000053012
00053065
DNA
SEQ
-
-
1
Johan den Dunnen
0000053013
00053066
DNA
SEQ
-
-
1
Johan den Dunnen
0000053016
00053068
DNA
SEQ
-
-
1
Johan den Dunnen
0000081150
00081038
DNA
SEQ;SEQ-NG
-
-
1
Daniel Trujillano
0000100616
00100212
DNA
SEQ-NG-I
-
-
1
Gemeinschaftspraxis für Humangenetik Dresden
0000132909
00132070
DNA
SEQ-NG-I
-
-
1
Karina Silveira
0000145750
00144893
DNA
SEQ-NG
-
-
1
Gemeinschaftspraxis für Humangenetik Dresden
0000152874
00152020
DNA
SEQ
-
-
1
Gemeinschaftspraxis für Humangenetik Dresden
0000164916
00164048
DNA
SEQ-NG
-
-
1
Gemeinschaftspraxis für Humangenetik Dresden
0000165561
00164695
DNA
SEQ;SEQ-NG
-
-
1
Eveline Boudin
0000165572
00164697
DNA
SEQ-NG
-
gene panel
1
Eveline Boudin
0000181884
00053062
DNA
SEQ
-
-
1
Kristina Lagerstedt Robinson
0000181886
00053067
DNA
SEQ
-
-
1
Paul Coucke
0000182174
00181216
DNA
SEQ-NG
-
-
1
Gemeinschaftspraxis für Humangenetik Dresden
0000208949
00207904
DNA
SEQ-NG
-
-
1
Gemeinschaftspraxis für Humangenetik Dresden
0000230921
00229824
DNA;RNA
SEQ
-
-
1
Carmela Fusco
0000230926
00229832
DNA;RNA
SEQ-NG-I
-
-
1
Carmela Fusco
0000270936
00269781
DNA
SEQ-NG
-
-
2
Gemeinschaftspraxis für Humangenetik Dresden
0000270937
00269782
DNA
SEQ-NG
-
-
1
Gemeinschaftspraxis für Humangenetik Dresden
0000275219
00274062
DNA
SEQ;SEQ-NG
-
gene panel
1
Johan den Dunnen
0000297175
00296004
DNA
SEQ-NG-I
blood
-
1
Angel Zuniga
0000297176
00296005
DNA
SEQ-NG-I
blood
-
1
Angel Zuniga
0000297177
00296006
DNA
SEQ-NG-I
blood
-
1
Angel Zuniga
0000297179
00296008
DNA
SEQ-NG-I
-
-
1
Angel Zuniga
0000297181
00296009
DNA
SEQ-NG-I
blood
-
1
Angel Zuniga
0000297183
00296010
DNA
SEQ-NG-I
blood
-
1
Angel Zuniga
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