Global Variome shared LOVD
F8 (coagulation factor VIII, procoagulant component)
LOVD v.3.0 Build 29 [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Geoffrey Kemball-Cook
View all genes
View F8 gene homepage
View graphs about the F8 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene F8
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene F8
View all variants in gene F8
Full data view for gene F8
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene F8
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene F8
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene F8
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
All screenings for gene F8
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-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
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.
8664 entries on 87 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
« First
Prev
1
2
3
4
5
6
7
8
9
10
11
...
Next
Last »
Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000000029
00000029
DNA
SEQ-NG
-
-
45
Global Variome, with Curator vacancy
0000019879
00019886
DNA
SEQ
-
-
2
Marianne Vos (LOVD-team)
0000039028
00038704
DNA
DGGE;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047204
00047105
DNA
PCR;SEQ
-
-
3
Geoffrey Kemball-Cook
0000047205
00047106
DNA
DHPLC;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047206
00047107
DNA
DHPLC;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047207
00047108
DNA
DHPLC;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047208
00047109
DNA
DHPLC;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047209
00047110
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047210
00047111
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047211
00047112
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047212
00047113
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047213
00047114
DNA
CMC;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047214
00047115
DNA
CMC;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047215
00047116
DNA
CMC;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047216
00047117
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047217
00047118
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047218
00047119
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047219
00047120
RNA
CMC;DHPLC;RT-PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047220
00047121
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047221
00047122
DNA
PCR;SEQ;SSCA
-
-
1
Geoffrey Kemball-Cook
0000047222
00047123
DNA
CSCE;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047223
00047124
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047224
00047125
RNA
PCRlr;RT-PCR;SEQ;SSCA
-
-
1
Geoffrey Kemball-Cook
0000047225
00047126
RNA
CMC;RT-PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047226
00047127
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047227
00047128
DNA
PCR;SEQ;SSCA
-
-
1
Geoffrey Kemball-Cook
0000047228
00047129
RNA
CMC;DHPLC;RT-PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047229
00047130
RNA
CMC;DHPLC;RT-PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047230
00047131
RNA
CMC;DHPLC;RT-PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047231
00047132
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047232
00047133
DNA
HD;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047233
00047134
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047234
00047135
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047235
00047136
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047236
00047137
DNA
CSCE;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047237
00047138
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047238
00047139
RNA
CMC;DHPLC;RT-PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047239
00047140
DNA
PCR;SEQ;SSCA
-
-
1
Geoffrey Kemball-Cook
0000047240
00047141
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047241
00047142
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047242
00047143
DNA
PCR;SEQ;SSCA
-
-
1
Geoffrey Kemball-Cook
0000047243
00047144
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047244
00047145
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047245
00047146
DNA
PCR;SEQ;SSCA
-
-
1
Geoffrey Kemball-Cook
0000047246
00047147
RNA
CMC;DHPLC;RT-PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047247
00047148
RNA
CMC;DHPLC;RT-PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047248
00047149
RNA
CMC;DHPLC;RT-PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047249
00047150
RNA
CMC;DHPLC;RT-PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047250
00047151
RNA
CMC;DHPLC;RT-PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047251
00047152
RNA
CMC;DHPLC;RT-PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047252
00047153
RNA
CMC;DHPLC;RT-PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047253
00047154
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047254
00047155
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047255
00047156
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047256
00047157
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047257
00047158
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047258
00047159
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047259
00047160
RNA
RT-PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047260
00047161
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047261
00047162
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047262
00047163
DNA
PCR;SEQ;SSCA
-
-
1
Geoffrey Kemball-Cook
0000047263
00047164
DNA
CMC;DGGE;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047264
00047165
DNA
CSCE;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047265
00047166
RNA
RT-PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047266
00047167
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047267
00047168
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047268
00047169
DNA
DGGE;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047269
00047170
RNA
RT-PCR;SEQ;SSCA
-
-
1
Geoffrey Kemball-Cook
0000047270
00047171
DNA
DHPLC;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047271
00047172
DNA
CSCE;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047272
00047173
DNA
DHPLC;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047273
00047174
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047274
00047175
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047275
00047176
DNA
CMC;DGGE;DHPLC;PCR;SEQ;SSCA
-
-
1
Geoffrey Kemball-Cook
0000047276
00047177
DNA
CMC;DGGE;DHPLC;PCR;SEQ;SSCA
-
-
1
Geoffrey Kemball-Cook
0000047277
00047178
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047278
00047179
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047279
00047180
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047280
00047181
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047281
00047182
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047282
00047183
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047283
00047184
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047284
00047185
RNA
CMC;RT-PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047285
00047186
RNA
CMC;RT-PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047286
00047187
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047287
00047188
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047288
00047189
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047289
00047190
DNA
CMC;DGGE;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047290
00047191
DNA
CMC;DGGE;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047291
00047192
DNA
PCR;SEQ;Southern
-
-
1
Geoffrey Kemball-Cook
0000047292
00047193
DNA
?
-
-
1
Geoffrey Kemball-Cook
0000047293
00047194
DNA
DGGE;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047294
00047195
DNA
HD;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047295
00047196
DNA
CMC;DHPLC;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047296
00047197
DNA
PCR;SEQ;SSCA
-
-
1
Geoffrey Kemball-Cook
0000047297
00047198
RNA
CMC;RT-PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047298
00047199
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047299
00047200
DNA
DHPLC;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000047300
00047201
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
« First
Prev
1
2
3
4
5
6
7
8
9
10
11
...
Next
Last »
Powered by
LOVD v.3.0
Build 29
LOVD software ©2004-2023
Leiden University Medical Center