Global Variome shared LOVD
CHRNA1 (cholinergic receptor, nicotinic, alpha 1 ...))
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Curator:
Johan den Dunnen
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View CHRNA1 gene homepage
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View all transcripts of gene CHRNA1
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View all variants affecting transcripts
View unique variants in gene CHRNA1
View all variants in gene CHRNA1
Full data view for gene CHRNA1
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View all individuals with variants in gene CHRNA1
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View all diseases associated with gene CHRNA1
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View available phenotype columns
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View all screenings for gene CHRNA1
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All screenings for gene CHRNA1
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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.
55 entries on 1 page. Showing entries 1 - 55.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000035285
00035215
DNA
SEQ
-
-
1
Andreas Laner
0000035286
00035216
DNA
SEQ
-
-
1
Andreas Laner
0000035287
00035217
DNA
SEQ
-
-
1
Andreas Laner
0000035288
00035218
DNA
SEQ
-
-
1
Andreas Laner
0000035289
00035219
DNA
SEQ
-
-
1
Andreas Laner
0000153824
00152961
DNA;RNA
RT-PCR;SEQ;SSCA
-
-
5
Johan den Dunnen
0000153825
00152962
DNA;RNA
RT-PCR;SEQ;SSCA
-
-
8
Johan den Dunnen
0000153826
00152963
DNA;RNA
RT-PCR;SEQ;SSCA
-
-
1
Johan den Dunnen
0000153827
00152964
DNA;RNA
RT-PCR;SEQ;SSCA
-
-
1
Johan den Dunnen
0000153828
00152965
DNA;RNA
RT-PCR;SEQ;SSCA
-
-
1
Johan den Dunnen
0000153829
00152966
DNA
SEQ
-
-
1
Johan den Dunnen
0000153830
00152967
DNA
SEQ
-
-
1
Johan den Dunnen
0000153831
00152968
DNA
SEQ
-
-
1
Johan den Dunnen
0000153832
00152969
DNA
SEQ
-
-
1
Johan den Dunnen
0000153833
00152970
DNA
SEQ
-
-
1
Johan den Dunnen
0000153834
00152971
DNA
SEQ
-
-
2
Johan den Dunnen
0000153835
00152972
DNA
SEQ
-
-
2
Johan den Dunnen
0000153836
00152973
DNA
SEQ
-
-
1
Johan den Dunnen
0000153837
00152974
DNA
SEQ
-
-
1
Johan den Dunnen
0000153838
00152975
DNA
SEQ
-
-
1
Johan den Dunnen
0000153839
00152976
DNA
SEQ
-
-
1
Johan den Dunnen
0000153840
00152977
DNA
SEQ
-
-
1
Johan den Dunnen
0000153841
00152978
DNA
SEQ
-
-
1
Johan den Dunnen
0000153842
00152979
DNA
SEQ
-
-
1
Johan den Dunnen
0000153843
00152980
DNA
SEQ
-
-
1
Johan den Dunnen
0000153844
00152981
DNA
SEQ
-
-
1
Johan den Dunnen
0000153845
00152982
DNA
SEQ
-
-
1
Johan den Dunnen
0000153846
00152983
DNA
SEQ
-
-
1
Johan den Dunnen
0000153847
00152984
DNA;RNA
RT-PCR;SEQ;SSCA
-
-
9
Johan den Dunnen
0000153848
00152985
DNA;RNA
RT-PCR;SEQ;SSCA
-
-
8
Johan den Dunnen
0000153849
00152986
DNA
SEQ
-
-
9
Johan den Dunnen
0000153850
00152987
DNA
SEQ
-
-
6
Johan den Dunnen
0000153851
00152988
DNA
SEQ
-
-
8
Johan den Dunnen
0000153852
00152989
DNA
SEQ
-
-
8
Johan den Dunnen
0000153853
00152990
DNA
SEQ
-
-
4
Johan den Dunnen
0000153854
00152991
DNA;RNA
RT-PCR;SEQ;SSCA
-
-
1
Johan den Dunnen
0000153855
00152992
DNA
SEQ
-
-
1
Angela Abicht
0000153856
00152993
DNA
SEQ
-
-
1
Angela Abicht
0000153857
00152994
DNA
SEQ;SSCA
-
-
4
Johan den Dunnen
0000153858
00152995
DNA
SEQ
-
-
1
Angela Abicht
0000153859
00152996
DNA
SEQ
-
-
1
Angela Abicht
0000153860
00152997
DNA
SEQ
-
-
1
Angela Abicht
0000153861
00152998
DNA
SEQ
-
-
1
Johan den Dunnen
0000153862
00152999
DNA;RNA
SEQ
-
-
1
Johan den Dunnen
0000153863
00153000
DNA
SEQ
-
-
1
Johan den Dunnen
0000153864
00153001
DNA
SEQ
-
-
1
Johan den Dunnen
0000153865
00153002
DNA
SEQ
-
-
1
Johan den Dunnen
0000153866
00153003
DNA
SEQ
-
-
1
Johan den Dunnen
0000153869
00153006
DNA
SEQ
-
-
1
Johan den Dunnen
0000153872
00153009
DNA
SEQ
-
-
1
Johan den Dunnen
0000153873
00153010
DNA
SEQ-NG
-
-
1
Tom Winder
0000164515
00163650
DNA
SEQ-NG-I
Umbilical cord
-
26
Florian Erger
0000205217
00204188
DNA
SEQ-NG-I
-
-
1
Fernando Ostos
0000306962
00305832
DNA
SEQ;SEQ-NG
-
candidate 420-gene panel
1
Johan den Dunnen
0000307258
00306128
DNA
SEQ-NG
-
-
1
Sha Hong
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