Global Variome shared LOVD
SCN1A (sodium channel, voltage-gated, type I, alpha...)
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Global Variome, with Curator vacancy
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View SCN1A gene homepage
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View all transcripts of gene SCN1A
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View all variants affecting transcripts
View unique variants in gene SCN1A
View all variants in gene SCN1A
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View all individuals with variants in gene SCN1A
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View all diseases associated with gene SCN1A
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View all screenings for gene SCN1A
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All screenings for gene SCN1A
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
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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.
239 entries on 3 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000016249
00016320
DNA
SEQ-NG-I
-
-
2
Lab Zuffardi
0000016252
00016323
DNA
SEQ;SEQ-NG-I
-
-
2
Lab Zuffardi
0000036853
00036783
DNA
SEQ
-
-
1
Andreas Laner
0000036854
00036784
DNA
SEQ
-
-
1
Andreas Laner
0000036855
00036785
DNA
SEQ
-
-
1
Andreas Laner
0000036856
00036786
DNA
SEQ
-
-
1
Andreas Laner
0000036857
00036787
DNA
SEQ
-
-
1
Andreas Laner
0000036858
00036788
DNA
SEQ
-
-
1
Andreas Laner
0000036859
00036789
DNA
SEQ
-
-
1
Andreas Laner
0000036860
00036790
DNA
SEQ
-
-
1
Andreas Laner
0000036861
00036791
DNA
SEQ
-
-
1
Andreas Laner
0000036862
00036792
DNA
SEQ
-
-
1
Andreas Laner
0000036863
00036793
DNA
SEQ
-
-
1
Andreas Laner
0000036864
00036794
DNA
SEQ
-
-
1
Andreas Laner
0000036865
00036795
DNA
SEQ
-
-
1
Andreas Laner
0000036866
00036796
DNA
SEQ
-
-
1
Andreas Laner
0000036867
00036797
DNA
SEQ
-
-
1
Andreas Laner
0000036868
00036798
DNA
SEQ
-
-
1
Andreas Laner
0000036869
00036799
DNA
SEQ
-
-
1
Andreas Laner
0000036870
00036800
DNA
SEQ
-
-
1
Andreas Laner
0000036871
00036801
DNA
SEQ
-
-
1
Andreas Laner
0000036872
00036802
DNA
SEQ
-
-
1
Andreas Laner
0000036873
00036803
DNA
SEQ
-
-
1
Andreas Laner
0000036874
00036804
DNA
SEQ
-
-
1
Andreas Laner
0000036875
00036805
DNA
SEQ
-
-
1
Andreas Laner
0000036876
00036806
DNA
SEQ
-
-
1
Andreas Laner
0000036877
00036807
DNA
SEQ
-
-
1
Andreas Laner
0000036878
00036808
DNA
SEQ
-
-
1
Andreas Laner
0000036879
00036809
DNA
SEQ
-
-
1
Andreas Laner
0000036880
00036810
DNA
SEQ
-
-
1
Andreas Laner
0000036881
00036811
DNA
SEQ
-
-
1
Andreas Laner
0000036882
00036812
DNA
SEQ
-
-
1
Andreas Laner
0000036883
00036813
DNA
SEQ
-
-
1
Andreas Laner
0000036884
00036814
DNA
SEQ
-
-
1
Andreas Laner
0000036885
00036815
DNA
SEQ
-
-
1
Andreas Laner
0000036886
00036816
DNA
SEQ
-
-
1
Andreas Laner
0000036887
00036817
DNA
SEQ
-
-
1
Andreas Laner
0000036888
00036818
DNA
SEQ
-
-
1
Andreas Laner
0000036889
00036819
DNA
SEQ
-
-
1
Andreas Laner
0000036890
00036820
DNA
SEQ
-
-
1
Andreas Laner
0000036891
00036821
DNA
SEQ
-
-
1
Andreas Laner
0000036892
00036822
DNA
SEQ
-
-
1
Andreas Laner
0000036893
00036823
DNA
SEQ
-
-
1
Andreas Laner
0000036894
00036824
DNA
SEQ
-
-
1
Andreas Laner
0000036895
00036825
DNA
SEQ
-
-
1
Andreas Laner
0000036896
00036826
DNA
SEQ
-
-
1
Andreas Laner
0000036897
00036827
DNA
SEQ
-
-
1
Andreas Laner
0000036898
00036828
DNA
SEQ
-
-
1
Andreas Laner
0000036899
00036829
DNA
SEQ
-
-
1
Andreas Laner
0000036900
00036830
DNA
SEQ
-
-
1
Andreas Laner
0000036901
00036831
DNA
SEQ
-
-
1
Andreas Laner
0000036902
00036832
DNA
SEQ
-
-
1
Andreas Laner
0000036903
00036833
DNA
SEQ
-
-
1
Andreas Laner
0000036904
00036834
DNA
SEQ
-
-
1
Andreas Laner
0000036905
00036835
DNA
SEQ
-
-
1
Andreas Laner
0000036906
00036836
DNA
SEQ
-
-
1
Andreas Laner
0000036907
00036837
DNA
SEQ
-
-
1
Andreas Laner
0000036908
00036838
DNA
SEQ
-
-
1
Andreas Laner
0000036909
00036839
DNA
SEQ
-
-
1
Andreas Laner
0000036910
00036840
DNA
SEQ
-
-
1
Andreas Laner
0000036911
00036841
DNA
SEQ
-
-
1
Andreas Laner
0000036912
00036842
DNA
SEQ
-
-
1
Andreas Laner
0000036913
00036843
DNA
SEQ
-
-
1
Andreas Laner
0000036914
00036844
DNA
SEQ
-
-
1
Andreas Laner
0000036915
00036845
DNA
SEQ
-
-
1
Andreas Laner
0000036916
00036846
DNA
SEQ
-
-
1
Andreas Laner
0000036917
00036847
DNA
SEQ
-
-
1
Andreas Laner
0000036918
00036848
DNA
SEQ
-
-
1
Andreas Laner
0000036919
00036849
DNA
SEQ
-
-
1
Andreas Laner
0000036920
00036850
DNA
SEQ
-
-
1
Andreas Laner
0000036921
00036851
DNA
SEQ
-
-
1
Andreas Laner
0000036922
00036852
DNA
SEQ
-
-
1
Andreas Laner
0000036923
00036853
DNA
SEQ
-
-
1
Andreas Laner
0000036924
00036854
DNA
SEQ
-
-
1
Andreas Laner
0000036925
00036855
DNA
SEQ
-
-
1
Andreas Laner
0000036926
00036856
DNA
SEQ
-
-
1
Andreas Laner
0000036927
00036857
DNA
SEQ
-
-
1
Andreas Laner
0000036928
00036858
DNA
SEQ
-
-
1
Andreas Laner
0000036929
00036859
DNA
SEQ
-
-
1
Andreas Laner
0000036930
00036860
DNA
SEQ
-
-
1
Andreas Laner
0000036931
00036861
DNA
SEQ
-
-
1
Andreas Laner
0000036932
00036862
DNA
SEQ
-
-
1
Andreas Laner
0000036933
00036863
DNA
SEQ
-
-
1
Andreas Laner
0000036934
00036864
DNA
SEQ
-
-
1
Andreas Laner
0000036935
00036865
DNA
SEQ
-
-
1
Andreas Laner
0000036936
00036866
DNA
SEQ
-
-
1
Andreas Laner
0000036937
00036867
DNA
SEQ
-
-
1
Andreas Laner
0000036938
00036868
DNA
SEQ
-
-
1
Andreas Laner
0000036939
00036869
DNA
SEQ
-
-
1
Andreas Laner
0000036940
00036870
DNA
SEQ
-
-
1
Andreas Laner
0000036941
00036871
DNA
SEQ
-
-
1
Andreas Laner
0000036942
00036872
DNA
SEQ
-
-
1
Andreas Laner
0000036943
00036873
DNA
SEQ
-
-
1
Andreas Laner
0000036944
00036874
DNA
SEQ
-
-
1
Andreas Laner
0000036945
00036875
DNA
SEQ
-
-
1
Andreas Laner
0000036946
00036876
DNA
SEQ
-
-
1
Andreas Laner
0000036947
00036877
DNA
SEQ
-
-
1
Andreas Laner
0000036948
00036878
DNA
SEQ
-
-
1
Andreas Laner
0000036949
00036879
DNA
SEQ
-
-
1
Andreas Laner
0000036950
00036880
DNA
SEQ
-
-
1
Andreas Laner
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