Global Variome shared LOVD
IFT140 (intraflagellar transport 140 homolog (Chla...))
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Global Variome, with Curator vacancy
View all genes
View IFT140 gene homepage
View graphs about the IFT140 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene IFT140
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene IFT140
View all variants in gene IFT140
Full data view for gene IFT140
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 IFT140
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene IFT140
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene IFT140
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
All screenings for gene IFT140
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
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
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.
142 entries on 2 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
Legend
How to query
« First
Prev
1
2
Next
Last »
Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000108342
00107873
DNA
SEQ-NG-R
-
-
3
Hannah Mitchison
0000108343
00107874
DNA
SEQ-NG-R
-
-
1
Hannah Mitchison
0000108344
00107875
DNA
SEQ-NG-I
-
-
2
Hannah Mitchison
0000108345
00107876
DNA
SEQ
-
-
2
Hannah Mitchison
0000108346
00107877
DNA
SEQ
-
-
1
Hannah Mitchison
0000108347
00107878
DNA
SEQ-NG-R
-
-
2
Hannah Mitchison
0000234400
00233301
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234401
00233302
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234402
00233303
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234403
00233304
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234404
00233305
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234405
00233306
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234406
00233307
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234407
00233308
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234408
00233309
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234409
00233310
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234410
00233311
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234411
00233312
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234412
00233313
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234413
00233314
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234414
00233315
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234415
00233316
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234416
00233317
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234417
00233318
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234418
00233319
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234419
00233320
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234420
00233321
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234421
00233322
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234422
00233323
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234423
00233324
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234424
00233325
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234425
00233326
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234426
00233327
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234427
00233328
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234428
00233329
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234429
00233330
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234430
00233331
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234431
00233332
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234432
00233333
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234433
00233334
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234434
00233335
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234435
00233336
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234436
00233337
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234437
00233338
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234438
00233339
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234439
00233340
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234440
00233341
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234441
00233342
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234442
00233343
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234443
00233344
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234444
00233345
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234445
00233346
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234446
00233347
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234447
00233348
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234448
00233349
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234449
00233350
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234450
00233351
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234451
00233352
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234452
00233353
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234883
00233784
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234884
00233785
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234885
00233786
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000234886
00233787
DNA
SEQ-NG
-
-
1
Yoshito Koyanagi
0000241553
00240443
DNA
SEQ-NG-I
blood
-
1
Juan Carlos Zenteno
0000241554
00240444
DNA
SEQ-NG-I
blood
-
1
Juan Carlos Zenteno
0000300780
00299670
DNA
SEQ;SEQ-NG
-
-
2
Johan den Dunnen
0000300781
00299671
DNA
SEQ;SEQ-NG
-
-
2
Johan den Dunnen
0000300782
00299672
DNA
SEQ;SEQ-NG
-
-
2
Johan den Dunnen
0000300783
00299673
DNA
SEQ;SEQ-NG
-
-
2
Johan den Dunnen
0000300784
00299674
DNA
SEQ;SEQ-NG
-
-
2
Johan den Dunnen
0000300785
00299675
DNA
SEQ;SEQ-NG
-
-
2
Johan den Dunnen
0000300786
00299676
DNA
SEQ;SEQ-NG
-
-
2
Johan den Dunnen
0000300788
00299678
DNA
SEQ;SEQ-NG
-
-
1
Johan den Dunnen
0000300789
00299679
DNA
SEQ;SEQ-NG
-
-
1
Johan den Dunnen
0000300790
00299680
DNA
SEQ;SEQ-NG
-
-
1
Johan den Dunnen
0000300791
00299681
DNA
SEQ;SEQ-NG
-
-
2
Johan den Dunnen
0000300792
00299682
DNA
SEQ;SEQ-NG
-
-
1
Johan den Dunnen
0000300793
00299683
DNA
SEQ;SEQ-NG
-
-
1
Johan den Dunnen
0000300794
00299684
DNA
SEQ;SEQ-NG
-
-
1
Johan den Dunnen
0000300795
00299685
DNA
SEQ;SEQ-NG
-
-
2
Johan den Dunnen
0000310339
00309194
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000326638
00325427
DNA
SEQ;SEQ-NG
-
199 gene panel
2
Johan den Dunnen
0000326662
00325451
DNA
SEQ;SEQ-NG
-
199 gene panel
1
Johan den Dunnen
0000326693
00325482
DNA
SEQ;SEQ-NG
-
199 gene panel
2
Johan den Dunnen
0000326727
00325516
DNA
SEQ;SEQ-NG
-
199 gene panel
2
Johan den Dunnen
0000329513
00328298
DNA
SEQ-NG
-
WGS
1
LOVD
0000332709
00331490
DNA
SEQ;SEQ-NG
-
WES
2
LOVD
0000332710
00331491
DNA
SEQ;SEQ-NG
-
WES
1
LOVD
0000335062
00333836
DNA
SEQ-NG
-
-
2
LOVD
0000335131
00333905
DNA
SEQ-NG
-
-
2
LOVD
0000335323
00334097
DNA
SEQ-NG
-
-
2
LOVD
0000335685
00334456
DNA
SEQ-NG
-
WES
2
LOVD
0000337208
00335978
DNA
SEQ-NG
-
gene panel
1
LOVD
0000360157
00358924
DNA
SEQ-NG
-
gene panel
2
LOVD
0000364144
00362916
DNA
SEQ-NG
-
WES
2
LOVD
0000364750
00363522
DNA
SEQ;SEQ-NG
-
WES
1
LOVD
0000380730
00379530
DNA
SEQ-NG
blood
-
2
LOVD
0000385303
00384078
DNA
SEQ-NG-I
-
-
2
LOVD
0000386318
00385089
DNA
SEQ-NG
-
targeted next-generation sequencing
2
LOVD
0000386396
00385167
DNA
SEQ-NG-I
-
176 genes panel
1
LOVD
10 per page
25 per page
50 per page
100 per page
Legend
How to query
« First
Prev
1
2
Next
Last »
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our
APIs
to retrieve data.
Powered by
LOVD v.3.0
Build 30b
LOVD software ©2004-2024
Leiden University Medical Center
Database contents © by their respective submitters and curators