Global Variome shared LOVD
AHI1 (Abelson helper integration site 1)
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Curator:
Global Variome, with Curator vacancy
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View all variants affecting transcripts
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View all diseases associated with gene AHI1
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All screenings for gene AHI1
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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
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.
223 entries on 3 pages. Showing entries 1 - 100.
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How to query
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000000036
00000036
DNA
SEQ-NG
-
-
9
Global Variome, with Curator vacancy
0000000039
00000039
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000051
00000051
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000053
00000053
DNA
SEQ-NG
-
-
11
Global Variome, with Curator vacancy
0000000066
00000066
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000069
00000069
DNA
SEQ-NG
-
-
17
Global Variome, with Curator vacancy
0000000087
00000087
DNA
SEQ-NG
-
-
11
Global Variome, with Curator vacancy
0000000094
00000094
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000096
00000096
DNA
SEQ-NG
-
-
11
Global Variome, with Curator vacancy
0000016543
00016591
DNA
SEQ-NG-I
peripheral blood
-
1
Hanno Bolz
0000028942
00028912
DNA
SEQ-NG-S
blood
-
3
Sanne Savelberg
0000028943
00028913
DNA
SEQ-NG-S
blood
-
2
Sanne Savelberg
0000028944
00028914
DNA
SEQ-NG-S
blood
-
3
Sanne Savelberg
0000028945
00028915
DNA
SEQ-NG-S
blood
-
2
Sanne Savelberg
0000033164
00033096
DNA
SEQ;SEQ-NG-S
-
-
6
Kornelia Neveling
0000033405
00033337
DNA
PCR;SEQ
-
-
2
Anas M Alazami
0000156242
00155377
DNA
SEQ
-
-
2
Dror Sharon
0000241532
00240422
DNA
SEQ-NG-I
blood
-
1
Juan Carlos Zenteno
0000270575
00269432
DNA
SEQ-NG
blood
-
1
Jinu Han
0000309858
00308713
DNA
SEQ;SEQ-NG
-
105 WGS/200 WES
1
Global Variome, with Curator vacancy
0000310083
00308938
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000310084
00308939
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000325752
00324518
DNA
SEQ-NG
-
gene panel
2
Qing Zhu
0000326626
00325415
DNA
SEQ;SEQ-NG
-
199 gene panel
1
Johan den Dunnen
0000326704
00325493
DNA
SEQ;SEQ-NG
-
199 gene panel
1
Johan den Dunnen
0000329164
00327949
DNA
SEQ-NG
-
WES
2
LOVD
0000329222
00328007
DNA
SEQ-NG
-
WGS
2
LOVD
0000329344
00328129
DNA
SEQ-NG
-
WGS
1
LOVD
0000333509
00332289
DNA
SEQ-NG
-
300-gene panel
2
LOVD
0000334684
00333459
DNA
SEQ
-
-
2
LOVD
0000336311
00335082
DNA
SEQ-NG
-
gene panel
2
LOVD
0000360088
00358856
DNA
SEQ;SEQ-NG
-
WES
2
LOVD
0000360091
00358859
DNA
SEQ;SEQ-NG
-
WES
2
LOVD
0000362803
00361575
DNA
SEQ-NG
-
WES
1
Johan den Dunnen
0000364622
00363394
DNA
SEQ-NG
-
WES
2
LOVD
0000364629
00363401
DNA
SEQ-NG
-
WES
1
LOVD
0000373336
00372107
DNA
SEQ
-
27-gene panel
1
LOVD
0000373337
00372108
DNA
SEQ
-
27-gene panel
1
LOVD
0000373338
00372109
DNA
SEQ
-
27-gene panel
1
LOVD
0000373339
00372110
DNA
SEQ
-
27-gene panel
2
LOVD
0000373340
00372111
DNA
SEQ
-
27-gene panel
2
LOVD
0000373341
00372112
DNA
SEQ
-
27-gene panel
2
LOVD
0000373342
00372113
DNA
SEQ
-
27-gene panel
2
LOVD
0000373343
00372114
DNA
SEQ
-
27-gene panel
2
LOVD
0000373344
00372115
DNA
SEQ
-
27-gene panel
1
LOVD
0000373345
00372116
DNA
SEQ
-
27-gene panel
2
LOVD
0000373346
00372117
DNA
SEQ
-
27-gene panel
1
LOVD
0000373347
00372118
DNA
SEQ
-
27-gene panel
1
LOVD
0000373348
00372119
DNA
SEQ
-
27-gene panel
1
LOVD
0000373349
00372120
DNA
SEQ
-
27-gene panel
1
LOVD
0000373350
00372121
DNA
SEQ
-
27-gene panel
1
LOVD
0000373351
00372122
DNA
SEQ
-
27-gene panel
1
LOVD
0000373352
00372123
DNA
SEQ
-
27-gene panel
1
LOVD
0000373353
00372124
DNA
SEQ
-
27-gene panel
2
LOVD
0000373354
00372125
DNA
SEQ
-
27-gene panel
2
LOVD
0000373355
00372126
DNA
SEQ
-
27-gene panel
2
LOVD
0000373356
00372127
DNA
SEQ
-
27-gene panel
1
LOVD
0000373357
00372128
DNA
SEQ
-
27-gene panel
1
LOVD
0000373358
00372129
DNA
SEQ
-
27-gene panel
1
LOVD
0000373359
00372130
DNA
SEQ
-
27-gene panel
1
LOVD
0000373360
00372131
DNA
SEQ
-
27-gene panel
1
LOVD
0000373361
00372132
DNA
SEQ
-
27-gene panel
2
LOVD
0000373362
00372133
DNA
SEQ
-
27-gene panel
2
LOVD
0000373363
00372134
DNA
SEQ
-
27-gene panel
1
LOVD
0000373364
00372135
DNA
SEQ
-
27-gene panel
1
LOVD
0000373365
00372136
DNA
SEQ
-
27-gene panel
2
LOVD
0000373366
00372137
DNA
SEQ
-
27-gene panel
1
LOVD
0000373367
00372138
DNA
SEQ
-
27-gene panel
2
LOVD
0000373368
00372139
DNA
SEQ
-
27-gene panel
2
LOVD
0000373369
00372140
DNA
SEQ
-
27-gene panel
1
LOVD
0000373600
00372371
DNA
SEQ
-
27-gene panel
1
LOVD
0000374628
00373393
DNA
SEQ-NG
-
22-gene panel
1
LOVD
0000374633
00373398
DNA
SEQ-NG
-
22-gene panel
1
LOVD
0000374985
00373752
DNA
SEQ
-
-
3
Julia Lopez
0000374986
00373753
DNA
SEQ
-
-
1
Julia Lopez
0000374987
00373754
DNA
SEQ
-
-
2
Julia Lopez
0000374988
00373755
DNA
SEQ
-
-
2
Julia Lopez
0000374989
00373756
DNA
SEQ
-
-
2
Julia Lopez
0000374990
00373757
DNA
SEQ
-
-
2
Julia Lopez
0000374991
00373758
DNA
SEQ
-
-
2
Julia Lopez
0000374992
00373759
DNA
SEQ
-
-
2
Julia Lopez
0000374993
00373760
DNA
SEQ
-
-
2
Julia Lopez
0000374994
00373761
DNA
SEQ
-
-
2
Julia Lopez
0000374995
00373762
DNA
SEQ
-
-
2
Julia Lopez
0000374996
00373763
DNA
SEQ
-
-
3
Julia Lopez
0000374997
00373764
DNA
SEQ
-
-
3
Julia Lopez
0000374998
00373765
DNA
SEQ
-
-
2
Julia Lopez
0000374999
00373766
DNA
SEQ
-
-
3
Julia Lopez
0000375008
00373775
DNA
SEQ
-
-
1
Julia Lopez
0000375010
00373777
DNA
SEQ
-
-
1
Julia Lopez
0000375015
00373782
DNA
SEQ
-
-
1
Julia Lopez
0000375017
00373784
DNA
SEQ
-
-
1
Julia Lopez
0000375019
00373786
DNA
SEQ
-
-
1
Julia Lopez
0000375020
00373787
DNA
SEQ
-
-
1
Julia Lopez
0000375375
00374181
DNA
SEQ-NG
-
TruSight One panel
1
Johan den Dunnen
0000375376
00374182
DNA
SEQ-NG
-
TruSight One panel
1
Johan den Dunnen
0000375377
00374183
DNA
SEQ-NG
-
TruSight One panel
2
Johan den Dunnen
0000375843
00374649
DNA
SEQ-NG
-
TruSight One panel
2
Johan den Dunnen
0000375844
00374650
DNA
SEQ-NG
-
TruSight One panel
1
Johan den Dunnen
0000378858
00377654
DNA
SEQ-NG
blood
targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome
2
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