Global Variome shared LOVD
SPRED1 (sprouty-related, EVH1 domain containing 1)
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Curator:
Ludwine Messiaen
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All screenings for gene SPRED1
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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.
334 entries on 4 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000037236
00037166
DNA
SEQ
-
-
1
Andreas Laner
0000037237
00037167
DNA
SEQ
-
-
1
Andreas Laner
0000037238
00037168
DNA
SEQ
-
-
1
Andreas Laner
0000037239
00037169
DNA
SEQ
-
-
1
Andreas Laner
0000037240
00037170
DNA
SEQ
-
-
1
Andreas Laner
0000037241
00037171
DNA
SEQ
-
-
1
Andreas Laner
0000171737
00170856
DNA
SEQ-NG-I
blood
-
Not yet submitted
Eva Trevisson
0000185271
00184304
DNA
SEQ-NG-IT
Blood tissue
-
1
Marica Eoli
0000186337
00185370
DNA
SEQ-NG-IT
Blood Tissue
-
1
Marica Eoli
0000186338
00185371
DNA
SEQ-NG-IT
Blood Tissue
-
1
Marica Eoli
0000186339
00185372
DNA
SEQ-NG-IT
Blood Tissue
-
1
Marica Eoli
0000186340
00185373
DNA
SEQ-NG-IT
Blood Tissue
-
1
Marica Eoli
0000186341
00185374
DNA
SEQ-NG-IT
Blood Tissue
-
1
Marica Eoli
0000186342
00185375
DNA
SEQ-NG-IT
Blood Tissue
-
1
Marica Eoli
0000186735
00185376
DNA
SEQ-NG-IT
Blood Tissue
-
1
Marica Eoli
0000186736
00185769
DNA
SEQ-NG-IT
Blood Tissue
-
1
Marica Eoli
0000186737
00185770
DNA
SEQ-NG-IT
Blood Tissue
-
1
Marica Eoli
0000186739
00185772
DNA
SEQ-NG-IT
Blood Tissue
-
1
Marica Eoli
0000186740
00185773
DNA
SEQ-NG-IT
Blood Tissue
-
1
Marica Eoli
0000186741
00185774
DNA
SEQ-NG-IT
Blood Tissue
-
1
Marica Eoli
0000186742
00185775
DNA
SEQ-NG-IT
Blood Tissue
-
1
Marica Eoli
0000186743
00185776
DNA
SEQ-NG-IT
Blood Tissue
-
1
Marica Eoli
0000186744
00185777
DNA
SEQ-NG-IT
Blood Tissue
-
1
Marica Eoli
0000186745
00185778
DNA
SEQ-NG-IT
Blood Tissue
-
1
Marica Eoli
0000186746
00185779
DNA
SEQ-NG-IT
Blood Tissue
-
1
Marica Eoli
0000186747
00185780
DNA
SEQ-NG-IT
Blood Tissue
-
1
Marica Eoli
0000186748
00185781
DNA
SEQ-NG-IT
Blood Tissue
-
1
Marica Eoli
0000186749
00185782
DNA
SEQ-NG-IT
Blood Tissue
-
1
Marica Eoli
0000206905
00205875
DNA;RNA
MLPA
blood
-
1
Ludwine Messiaen
0000206906
00205876
DNA;RNA
MLPA;arrayCGH
blood
-
1
Ludwine Messiaen
0000206907
00205877
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206908
00205878
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206909
00205879
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206910
00205880
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206911
00205881
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206912
00205882
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206913
00205883
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206914
00205884
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206915
00205885
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206916
00205886
DNA
SEQ
blood
-
1
Eva Trevisson
0000206917
00205887
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206918
00205888
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206919
00205889
DNA;RNA
SEQ;MLPA
blood
-
1
Ludwine Messiaen
0000206920
00205890
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206921
00205891
DNA;RNA
SEQ;SEQ;MLPA
blood
-
1
Ludwine Messiaen
0000206922
00205892
DNA
SEQ;MLPA
blood
-
1
Ludwine Messiaen
0000206923
00205893
DNA;RNA
SEQ;SEQ;MLPA
blood
-
1
Ludwine Messiaen
0000206924
00205894
DNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206925
00205895
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206926
00205896
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206927
00205897
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206928
00205898
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206929
00205899
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206930
00205900
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206931
00205901
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206932
00205902
DNA
SEQ
blood
-
1
Beatrice Parfait
0000206933
00205903
DNA
SEQ
blood
-
1
Beatrice Parfait
0000206934
00205904
DNA
SEQ
blood
-
1
Beatrice Parfait
0000206936
00205906
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206937
00205907
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206938
00205908
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206939
00205909
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206940
00205910
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206941
00205911
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206942
00205912
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206943
00205913
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206944
00205914
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206945
00205915
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206946
00205916
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206947
00205917
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206948
00205918
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206949
00205919
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206950
00205920
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206951
00205921
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206952
00205922
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206953
00205923
DNA
SEQ
blood
-
1
Beatrice Parfait
0000206954
00205924
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206955
00205925
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206956
00205926
DNA;RNA
SEQ;SEQ;MLPA
blood
-
1
Ludwine Messiaen
0000206957
00205927
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206958
00205928
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206959
00205929
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206960
00205930
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206961
00205931
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206962
00205932
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206963
00205933
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206964
00205934
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206965
00205935
DNA
SEQ;MLPA
blood
-
1
Ludwine Messiaen
0000206966
00205936
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206967
00205937
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206968
00205938
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206969
00205939
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206970
00205940
DNA;RNA
SEQ;SEQ
blood
-
1
Ludwine Messiaen
0000206971
00205941
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206972
00205942
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206973
00205943
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206974
00205944
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206975
00205945
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206976
00205946
DNA
SEQ
blood
-
1
Ludwine Messiaen
0000206977
00205947
DNA
SEQ
blood
-
1
Ludwine Messiaen
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