All screenings for gene AGXT

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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

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

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.

60 entries on 1 page. Showing entries 1 - 60.

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How to query

Screening ID	Individual ID	Template	Technique	Tissue	Remarks	Variants found	Owner
0000000046	00000046	DNA	SEQ-NG	-	-	14	Global Variome, with Curator vacancy
0000000051	00000051	DNA	SEQ-NG	-	-	14	Global Variome, with Curator vacancy
0000000055	00000055	DNA	SEQ-NG	-	-	12	Global Variome, with Curator vacancy
0000000062	00000062	DNA	SEQ-NG	-	-	16	Global Variome, with Curator vacancy
0000000074	00000074	DNA	SEQ-NG	-	-	9	Global Variome, with Curator vacancy
0000000077	00000077	DNA	SEQ-NG	-	-	10	Global Variome, with Curator vacancy
0000017582	00017599	DNA	arraySNP;SEQ;SEQ-NG-I	-	-	10	Johan den Dunnen
0000205607	00204578	DNA	SEQ	-	-	1	Damien Bruno
0000363240	00362012	DNA	SEQ	Blood	-	2	Mohamed A. Elmonem
0000363241	00362013	DNA	SEQ	Blood	-	1	Mohamed A. Elmonem
0000412633	00411364	DNA	SEQ	-	-	1	Aiysha Abid
0000412634	00411365	DNA	SEQ-NG-IT	-	-	1	Aiysha Abid
0000412635	00411366	DNA	SEQ-NG-IT	-	-	1	Aiysha Abid
0000412636	00411367	DNA	SEQ	-	-	1	Aiysha Abid
0000412647	00411378	DNA	SEQ	-	-	1	Aiysha Abid
0000412648	00411379	DNA	SEQ	-	-	1	Aiysha Abid
0000412679	00411410	DNA	SEQ	-	-	1	Aiysha Abid
0000412682	00411413	DNA	SEQ	-	-	1	Aiysha Abid
0000412683	00411414	DNA	SEQ	-	-	1	Aiysha Abid
0000412684	00411415	DNA	SEQ	-	-	1	Aiysha Abid
0000412686	00411416	DNA	SEQ	-	-	1	Aiysha Abid
0000412687	00411418	DNA	SEQ	-	-	1	Aiysha Abid
0000412691	00411422	DNA	SEQ	-	-	1	Aiysha Abid
0000412692	00411423	DNA	SEQ	-	-	1	Aiysha Abid
0000412693	00411424	DNA	SEQ	-	-	1	Aiysha Abid
0000412694	00411425	DNA	SEQ	-	-	1	Aiysha Abid
0000412695	00411426	DNA	SEQ	-	-	1	Aiysha Abid
0000412726	00411456	DNA	SEQ	-	-	2	Aiysha Abid
0000412727	00411457	DNA	SEQ	-	-	1	Aiysha Abid
0000412728	00411458	DNA	SEQ	-	-	1	Aiysha Abid
0000412766	00411496	DNA	SEQ	-	-	1	Aiysha Abid
0000412771	00411501	DNA	SEQ	-	-	1	Aiysha Abid
0000412774	00411504	DNA	SEQ	-	-	1	Aiysha Abid
0000412775	00411505	DNA	SEQ	-	-	1	Aiysha Abid
0000412798	00411528	DNA	SEQ	-	-	1	Aiysha Abid
0000412799	00411529	DNA	SEQ	-	-	1	Aiysha Abid
0000412800	00411530	DNA	SEQ	-	-	1	Aiysha Abid
0000412801	00411531	DNA	SEQ	-	-	1	Aiysha Abid
0000412816	00411546	DNA	SEQ	-	-	1	Aiysha Abid
0000415675	00414395	DNA	SEQ-NG-I	blood	-	2	LOVD
0000415721	00414441	DNA	SEQ-NG-I	blood	-	3	LOVD
0000415753	00414473	DNA	SEQ-NG-I	blood	-	1	LOVD
0000469236	00467572	DNA	SEQ	-	-	1	Mohamed A. Elmonem
0000469237	00467573	DNA	SEQ	-	-	1	Mohamed A. Elmonem
0000469238	00467574	DNA	SEQ	-	-	1	Mohamed A. Elmonem
0000469239	00467575	DNA	SEQ	-	-	1	Mohamed A. Elmonem
0000469240	00467576	DNA	SEQ	-	-	1	Mohamed A. Elmonem
0000469241	00467577	DNA	SEQ	-	-	1	Mohamed A. Elmonem
0000469242	00467578	DNA	SEQ	-	-	1	Mohamed A. Elmonem
0000469243	00467579	DNA	SEQ	-	-	1	Mohamed A. Elmonem
0000469244	00467580	DNA	SEQ	-	-	1	Mohamed A. Elmonem
0000469245	00467581	DNA	SEQ	-	-	1	Mohamed A. Elmonem
0000469246	00467582	DNA	SEQ	-	-	1	Mohamed A. Elmonem
0000469247	00467583	DNA	SEQ	-	-	1	Mohamed A. Elmonem
0000469248	00467584	DNA	SEQ	-	-	1	Mohamed A. Elmonem
0000469249	00467585	DNA	SEQ	-	-	1	Mohamed A. Elmonem
0000469250	00467586	DNA	SEQ	-	-	1	Mohamed A. Elmonem
0000469251	00467587	DNA	SEQ	-	-	2	Mohamed A. Elmonem
0000469252	00467588	DNA	SEQ	-	-	1	Mohamed A. Elmonem
0000469253	00467589	DNA	SEQ	-	-	1	Mohamed A. Elmonem

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How to query

Global Variome shared LOVD

AGXT (alanine-glyoxylate aminotransferase)