Global Variome shared LOVD
MEFV (Mediterranean fever)
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Curators:
Isabelle Touitou
and
Guillaume Sarrabay
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View all variants affecting transcripts
View unique variants in gene MEFV
View all variants in gene MEFV
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View all individuals with variants in gene MEFV
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View all diseases associated with gene MEFV
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All screenings for gene MEFV
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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
arrayMET = array for methylation analysis
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 = single 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-RNA = next-generation sequencing RNA
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
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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.
181 entries on 2 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000000005
00000005
DNA
SEQ-NG
-
-
12
Global Variome, with Curator vacancy
0000000009
00000009
DNA
SEQ-NG
-
-
18
Global Variome, with Curator vacancy
0000000013
00000013
DNA
SEQ-NG
-
-
8
Global Variome, with Curator vacancy
0000000024
00000024
DNA
SEQ-NG
-
-
15
Global Variome, with Curator vacancy
0000000026
00000026
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000047
00000047
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000048
00000048
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000058
00000058
DNA
SEQ-NG
-
-
18
Global Variome, with Curator vacancy
0000000059
00000059
DNA
SEQ-NG
-
-
8
Global Variome, with Curator vacancy
0000000062
00000062
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000063
00000063
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000067
00000067
DNA
SEQ-NG
-
-
18
Global Variome, with Curator vacancy
0000000075
00000075
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000076
00000076
DNA
SEQ-NG
-
-
18
Global Variome, with Curator vacancy
0000000107
00000107
DNA
SEQ-NG
-
-
15
Global Variome, with Curator vacancy
0000054761
00054812
DNA
SEQ
-
-
1
Isabelle Touitou
0000054762
00054813
DNA
SEQ
-
-
1
Isabelle Touitou
0000054763
00054814
DNA
SEQ
-
-
1
Isabelle Touitou
0000054764
00054815
DNA
SEQ
-
-
1
Isabelle Touitou
0000054765
00054816
DNA
SEQ
-
-
1
Isabelle Touitou
0000054766
00054817
DNA
SEQ
-
-
1
Isabelle Touitou
0000054867
00054914
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000054868
00054915
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000054869
00054916
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000054870
00054917
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000054871
00054918
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000054872
00054919
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000054873
00054920
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000054875
00054922
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000054876
00054923
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000054877
00054924
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000054878
00054925
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000056002
00056047
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000056230
00056277
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000056231
00056280
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000056233
00056282
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000056235
00056285
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000056237
00056287
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000056239
00056288
DNA
SBE
White Blood Cells
-
1
Wided Kelmemi
0000056243
00056293
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000056244
00056294
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000056246
00056295
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000056247
00056296
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000056249
00056299
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000056251
00056301
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000056253
00056302
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000056255
00056304
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000056261
00056310
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000056266
00056316
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000056268
00056318
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000056269
00056319
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000056270
00056320
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057198
00057172
DNA
SEQ
White Blood Celles
-
1
Wided Kelmemi
0000057199
00057237
DNA
SEQ
White Blood Celles
-
1
Wided Kelmemi
0000057200
00057238
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057201
00057239
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057202
00057240
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057203
00057241
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057204
00057242
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057205
00057243
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057206
00057244
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057207
00057245
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057208
00057246
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057209
00057247
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057210
00057248
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057219
00057258
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057220
00057259
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057221
00057260
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057222
00057261
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057225
00057264
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057227
00057266
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057229
00057268
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057230
00057269
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057231
00057270
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057233
00057272
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057234
00057273
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057235
00057274
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057236
00057275
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057237
00057276
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057238
00057277
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057239
00057278
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057240
00057279
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057853
00057892
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057854
00057893
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057855
00057894
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057856
00057895
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057857
00057896
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057858
00057897
DNA
SEQ
White Blood Cells
-
1
Wided Kelmemi
0000057866
00057904
DNA
SEQ
White Blood Cells
-
2
Wided Kelmemi
0000057869
00057907
DNA
SEQ
White Blood Cells
-
2
Wided Kelmemi
0000057872
00057910
DNA
SEQ
White Blood Cells
-
2
Wided Kelmemi
0000057873
00057912
DNA
SEQ
White Blood Cells
-
2
Wided Kelmemi
0000057875
00057913
DNA
SEQ
White Blood Cells
-
2
Wided Kelmemi
0000057878
00057914
DNA
SEQ
White Blood Cells
-
2
Wided Kelmemi
0000057890
00057927
DNA
SEQ
White Blood Cells
-
2
Wided Kelmemi
0000057891
00057928
DNA
SEQ
White Blood Cells
-
2
Wided Kelmemi
0000057892
00057929
DNA
SEQ
White Blood Cells
-
2
Wided Kelmemi
0000057893
00057930
DNA
SEQ
White Blood Cells
-
2
Wided Kelmemi
0000057894
00057931
DNA
SEQ
White Blood Cells
-
2
Wided Kelmemi
0000057895
00057932
DNA
SEQ
White Blood Cells
-
2
Wided Kelmemi
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