Global Variome shared LOVD
FANCE (Fanconi anemia, complementation group E)
LOVD v.3.0 Build 25c [
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Curator:
Arleen D. Auerbach
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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.
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.
33 entries on 1 page. Showing entries 1 - 33.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000020227
00020230
DNA
SEQ
-
-
1
Arleen D. Auerbach
0000020228
00020231
DNA
SEQ
-
-
1
Arleen D. Auerbach
0000020229
00020232
DNA
SEQ
-
-
1
Arleen D. Auerbach
0000020230
00020233
DNA
SEQ
-
-
2
Johan de Winter
0000020231
00020234
DNA
SEQ
-
-
2
Arleen D. Auerbach
0000020232
00020235
DNA
SEQ
-
-
2
Arleen D. Auerbach
0000020233
00020236
DNA
SEQ
-
-
1
Arleen D. Auerbach
0000020234
00020237
DNA
SEQ
-
-
1
Arleen D. Auerbach
0000020235
00020238
DNA
SEQ
-
-
1
Arleen D. Auerbach
0000020236
00020239
DNA
SEQ
-
-
1
Arleen D. Auerbach
0000020237
00020240
DNA
SEQ
-
-
1
Arleen D. Auerbach
0000020238
00020241
DNA
SEQ
-
-
1
Arleen D. Auerbach
0000020239
00020242
DNA
SEQ
-
-
1
Arleen D. Auerbach
0000020240
00020243
DNA
SEQ
-
-
1
Arleen D. Auerbach
0000020241
00020244
DNA
SEQ
-
-
1
Arleen D. Auerbach
0000020242
00020245
DNA
SEQ
-
-
1
Arleen D. Auerbach
0000020243
00020246
DNA
SEQ
-
-
1
Arleen D. Auerbach
0000020244
00020247
DNA
SEQ
-
-
1
Arleen D. Auerbach
0000020245
00020248
DNA
SEQ
-
-
1
Arleen D. Auerbach
0000020246
00020249
DNA
SEQ
-
-
1
Arleen D. Auerbach
0000020247
00020250
DNA
SEQ
-
-
2
Arleen D. Auerbach
0000020248
00020251
DNA
SEQ
-
-
2
Arleen D. Auerbach
0000020249
00020252
DNA
SEQ
-
-
2
Arleen D. Auerbach
0000020250
00020253
DNA
SEQ
-
-
2
Arleen D. Auerbach
0000020251
00020254
DNA
SEQ
-
-
2
Johan de Winter
0000020252
00020255
DNA
SEQ
-
-
2
Johan de Winter
0000020253
00020256
DNA
SEQ
-
-
2
Johan de Winter
0000020254
00020257
DNA
SEQ
-
-
1
Johan de Winter
0000020255
00020258
DNA
SEQ
-
-
2
Johan de Winter
0000020256
00020259
DNA
SEQ
-
-
2
Arleen D. Auerbach
0000020257
00020260
DNA
SEQ
-
-
2
Arleen D. Auerbach
0000020258
00020261
DNA
SEQ
-
-
2
Arleen D. Auerbach
0000020259
00020262
DNA
SEQ
-
-
2
Johan de Winter
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