Global Variome shared LOVD
SMN1 (survival of motor neuron 1, telomeric)
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Curator:
Johan den Dunnen
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All screenings for gene SMN1
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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-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.
132 entries on 2 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000000037
00000037
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000117167
00116707
DNA
SEQ
-
-
3
Johan den Dunnen
0000117168
00116708
DNA
SEQ
-
-
3
Johan den Dunnen
0000117169
00116709
DNA;RNA
RT-PCR;SEQ
-
-
1
Fang Song
0000117170
00116710
DNA
SEQ
-
-
2
Rosário dos Santos
0000117171
00116711
DNA
SEQ
-
-
2
Johan den Dunnen
0000117172
00116712
DNA
SEQ
-
-
2
Johan den Dunnen
0000117173
00116713
DNA
SEQ
-
-
2
Johan den Dunnen
0000117174
00116714
DNA
SEQ
-
-
2
Johan den Dunnen
0000117175
00116715
DNA
SEQ
-
-
2
Johan den Dunnen
0000117176
00116716
DNA
SEQ
-
-
2
Johan den Dunnen
0000117177
00116717
DNA
SEQ
-
-
2
Johan den Dunnen
0000117178
00116718
DNA
SEQ
-
-
2
Johan den Dunnen
0000117179
00116719
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000117180
00116720
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000117181
00116721
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000117182
00116722
DNA
SEQ
-
-
2
Johan den Dunnen
0000117183
00116723
DNA
SEQ
-
-
2
Johan den Dunnen
0000117184
00116724
DNA
SEQ
-
-
2
Johan den Dunnen
0000117185
00116725
DNA
SEQ
-
-
2
Johan den Dunnen
0000117186
00116726
DNA
SEQ
-
-
2
Johan den Dunnen
0000117187
00116727
DNA
SEQ
-
-
2
Johan den Dunnen
0000117188
00116728
DNA
SEQ
-
-
2
Johan den Dunnen
0000117189
00116729
DNA
SEQ
-
-
2
Johan den Dunnen
0000117190
00116730
DNA
SEQ
-
-
2
Johan den Dunnen
0000117191
00116731
DNA
SEQ
-
-
2
Johan den Dunnen
0000117192
00116732
DNA
SEQ
-
-
2
Johan den Dunnen
0000117193
00116733
DNA
SEQ
-
-
2
Rosário dos Santos
0000117194
00116734
DNA;RNA
SEQ;RT-PCR
-
-
2
Rosário dos Santos
0000117195
00116735
DNA;RNA
SEQ;RT-PCR
-
-
2
Rosário dos Santos
0000117196
00116736
DNA
SEQ
-
-
1
Johan den Dunnen
0000117197
00116737
DNA
SEQ
-
-
1
Johan den Dunnen
0000117198
00116738
DNA
SEQ
-
-
2
Johan den Dunnen
0000117199
00116739
DNA
SEQ
-
-
2
Johan den Dunnen
0000117200
00116740
DNA
SEQ
-
-
2
Johan den Dunnen
0000117201
00116741
DNA
SEQ
-
-
2
Johan den Dunnen
0000117202
00116742
DNA
SEQ
-
-
2
Johan den Dunnen
0000117203
00116743
DNA
SEQ
-
-
2
Johan den Dunnen
0000117204
00116744
DNA
SEQ
-
-
2
Johan den Dunnen
0000117205
00116745
DNA
SEQ
-
-
2
Johan den Dunnen
0000117206
00116746
DNA
SEQ
-
-
2
Johan den Dunnen
0000117207
00116747
DNA
SEQ
-
-
2
Johan den Dunnen
0000117208
00116748
DNA
SEQ
-
-
2
Johan den Dunnen
0000117209
00116749
DNA
SEQ
-
-
2
Johan den Dunnen
0000117210
00116750
DNA
SEQ
-
-
2
Johan den Dunnen
0000117211
00116751
DNA
SEQ
-
-
2
Johan den Dunnen
0000117212
00116752
DNA
SEQ
-
-
2
Johan den Dunnen
0000117213
00116753
DNA
SEQ
-
-
2
Johan den Dunnen
0000117214
00116754
DNA
SEQ
-
-
2
Johan den Dunnen
0000117215
00116755
DNA
SEQ
-
-
2
Johan den Dunnen
0000117216
00116756
DNA
SEQ
-
-
2
Johan den Dunnen
0000117217
00116757
DNA
SEQ
-
-
2
Johan den Dunnen
0000117218
00116758
DNA
SEQ
-
-
2
Johan den Dunnen
0000117219
00116759
DNA
SEQ
-
-
2
Johan den Dunnen
0000117220
00116760
DNA
SEQ
-
-
2
Johan den Dunnen
0000117221
00116761
DNA
SEQ
-
-
2
Johan den Dunnen
0000117222
00116762
DNA
SEQ
-
-
2
Johan den Dunnen
0000117223
00116763
DNA;RNA
MLPA;RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000117224
00116764
DNA;RNA
MLPA;RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000117225
00116765
DNA;RNA
MLPA;RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000117226
00116766
DNA;RNA
MLPA;RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000117227
00116767
DNA;RNA
MLPA;RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000117228
00116768
DNA;RNA
MLPA;RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000117229
00116769
DNA;RNA
MLPA;RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000117230
00116770
DNA;RNA
MLPA;RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000117231
00116771
DNA;RNA
MLPA;RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000117232
00116772
DNA
PCRq
-
-
2
Hisahide Nishio
0000117233
00116773
DNA
PCRq
-
-
2
Hisahide Nishio
0000117234
00116774
DNA
PCRq
-
-
2
Hisahide Nishio
0000117235
00116775
DNA
PCRq
-
-
2
Hisahide Nishio
0000117236
00116776
DNA
PCRq
-
-
2
Hisahide Nishio
0000117237
00116777
DNA
PCRq
-
-
2
Hisahide Nishio
0000117238
00116778
DNA
SEQ
-
-
1
Fang Song
0000117239
00116779
DNA;RNA
RT-PCR;SEQ
-
-
1
Fang Song
0000117240
00116780
DNA;RNA
RT-PCR;SEQ
-
-
1
Fang Song
0000117241
00116781
DNA
SEQ
-
-
1
Kathleen Vinette
0000117242
00116782
DNA
SEQ
-
-
1
Fang Song
0000117243
00116783
DNA;RNA
SEQ;RT-PCR
-
-
2
Rosário dos Santos
0000117244
00116784
DNA
SEQ
-
-
1
Fang Song
0000117245
00116785
DNA
SEQ
-
-
1
Johan den Dunnen
0000117246
00116786
DNA;RNA
RT-PCR;SEQ
-
-
1
Fang Song
0000117247
00116787
DNA
SEQ
-
-
1
Pascale Saugier-Veber
0000117248
00116788
DNA
SEQ
-
-
2
Johan den Dunnen
0000117249
00116789
DNA;RNA
RT-PCR
-
-
1
Fang Song
0000117250
00116790
DNA;RNA
SEQ
-
-
1
Fang Song
0000117251
00116791
DNA;RNA
RT-PCR;SEQ
-
-
1
Fang Song
0000117252
00116792
DNA
SEQ
-
-
1
Johan den Dunnen
0000117253
00116793
DNA
SEQ
-
-
1
Johan den Dunnen
0000117254
00116794
DNA
SEQ
-
-
2
Johan den Dunnen
0000117255
00116795
DNA
SEQ
-
-
1
Johan den Dunnen
0000117256
00116796
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000150970
00150115
DNA
PCR
peripheral blood
-
1
Laura Alías
0000150971
00150116
DNA
SEQ
-
-
1
Laura Alías
0000150975
00150120
DNA
SEQ
-
-
2
Laura Alías
0000150976
00150121
DNA
SEQ
peripheral blood
-
-
Laura Alías
0000168932
00168061
DNA
MLPA;SEQ
-
-
1
Kyriaki Kekou
0000168944
00168071
DNA
MLPA;SEQ
-
-
1
Kyriaki Kekou
0000168945
00168072
DNA
MLPA;SEQ
-
-
1
Kyriaki Kekou
0000168946
00168073
DNA
MLPA;SEQ
-
-
1
Kyriaki Kekou
0000168947
00168074
DNA
SEQ
-
-
1
Kyriaki Kekou
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