All screenings for gene OTC

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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

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.

519 entries on 6 pages. Showing entries 1 - 100.

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Screening ID	Individual ID	Template	Technique	Tissue	Remarks	Variants found	Owner
0000113567	00113109	DNA	SEQ	-	-	4	Johan den Dunnen
0000113568	00113110	DNA	SEQ	-	-	4	Johan den Dunnen
0000113569	00113111	DNA	SEQ	-	-	4	Johan den Dunnen
0000113570	00113112	DNA	SEQ	-	-	3	Johan den Dunnen
0000113571	00113113	DNA	SEQ	-	-	4	Johan den Dunnen
0000113572	00113114	DNA	SEQ	-	-	3	Johan den Dunnen
0000113573	00113115	DNA	SEQ	-	-	3	Johan den Dunnen
0000113574	00113116	DNA	SEQ	-	-	2	Johan den Dunnen
0000113575	00113117	DNA	SEQ	-	-	2	Johan den Dunnen
0000113576	00113118	DNA	SEQ	-	-	2	Johan den Dunnen
0000113577	00113119	DNA	SEQ	-	-	3	Johan den Dunnen
0000113578	00113120	DNA	SEQ	-	-	3	Johan den Dunnen
0000113579	00113121	DNA	SEQ	-	-	3	Johan den Dunnen
0000113580	00113122	DNA	SEQ	-	-	3	Johan den Dunnen
0000113581	00113123	DNA	SEQ	-	-	1	Lenka Dvořáková
0000113582	00113124	DNA	SEQ	-	-	2	Johan den Dunnen
0000113583	00113125	DNA	SEQ	-	-	1	Johan den Dunnen
0000113584	00113126	DNA	SEQ	-	-	2	Johan den Dunnen
0000113585	00113127	DNA	SEQ	-	-	2	Johan den Dunnen
0000113586	00113128	DNA	SEQ	-	-	2	Johan den Dunnen
0000113587	00113129	DNA	SEQ	-	-	2	Johan den Dunnen
0000113588	00113130	DNA	SEQ	-	-	1	Johan den Dunnen
0000113589	00113131	DNA	SEQ	-	-	1	Johan den Dunnen
0000113590	00113132	DNA	SEQ	-	-	1	Bert Bakker
0000113591	00113133	DNA	SEQ	-	-	1	Bert Bakker
0000113592	00113134	DNA	SEQ	-	-	1	Bert Bakker
0000113593	00113135	DNA	SEQ	-	-	1	Bert Bakker
0000113594	00113136	DNA	SEQ	-	-	1	Bert Bakker
0000113595	00113137	DNA	SEQ	-	-	1	Bert Bakker
0000113596	00113138	DNA	SEQ	-	-	1	Bert Bakker
0000113597	00113139	DNA	SEQ	-	-	1	Bert Bakker
0000113598	00113140	DNA	SEQ	-	-	1	Bert Bakker
0000113599	00113141	DNA	SEQ	-	-	1	Bert Bakker
0000113600	00113142	DNA	SEQ	-	-	1	Bert Bakker
0000113601	00113143	DNA	SEQ	-	-	1	Bert Bakker
0000113602	00113144	DNA	SEQ	-	-	1	Bert Bakker
0000113603	00113145	DNA	SEQ	-	-	1	Bert Bakker
0000113604	00113146	DNA	SEQ	-	-	1	Bert Bakker
0000113605	00113147	DNA	MCA;SEQ	-	-	1	Johan den Dunnen
0000113606	00113148	DNA	MCA;SEQ	-	-	1	Johan den Dunnen
0000113607	00113149	DNA	SEQ	-	-	1	Bert Bakker
0000113608	00113150	DNA	SEQ	-	-	1	Bert Bakker
0000113609	00113151	DNA	SEQ	-	-	1	Bert Bakker
0000113610	00113152	DNA	SEQ	-	-	1	Bert Bakker
0000113611	00113153	DNA	SEQ	-	-	1	Bert Bakker
0000113612	00113154	DNA	SEQ	-	-	1	Bert Bakker
0000113613	00113155	DNA	SEQ	-	-	1	Bert Bakker
0000113614	00113156	DNA	SEQ	-	-	1	Bert Bakker
0000113615	00113157	DNA	SEQ	-	-	1	Bert Bakker
0000113616	00113158	DNA	SEQ	-	-	1	Bert Bakker
0000113617	00113159	DNA	SEQ	-	-	1	Bert Bakker
0000113618	00113160	DNA	SEQ	-	-	1	Bert Bakker
0000113619	00113161	DNA;RNA	RT-PCR;SEQ	-	-	1	Johan den Dunnen
0000113620	00113162	DNA;RNA	RT-PCR;SEQ	-	-	1	Bert Bakker
0000113621	00113163	DNA	SEQ	-	-	1	Bert Bakker
0000113622	00113164	DNA	SEQ	-	-	1	Bert Bakker
0000113623	00113165	DNA	SEQ	-	-	1	Bert Bakker
0000113624	00113166	DNA	SEQ	-	-	1	Bert Bakker
0000113625	00113167	DNA	SEQ	-	-	1	Bert Bakker
0000113626	00113168	DNA	SEQ	-	-	1	Bert Bakker
0000113627	00113169	DNA	SEQ	-	-	1	Bert Bakker
0000113628	00113170	DNA	SEQ	-	-	1	Bert Bakker
0000113629	00113171	DNA	SEQ	-	-	1	Bert Bakker
0000113630	00113172	DNA	SEQ	-	-	1	Bert Bakker
0000113631	00113173	DNA	SEQ	-	-	1	Bert Bakker
0000113632	00113174	DNA	SEQ	-	-	1	Bert Bakker
0000113633	00113175	DNA	SSCA	-	-	1	Johan den Dunnen
0000113634	00113176	DNA	SSCA	-	-	1	Johan den Dunnen
0000113635	00113177	DNA	SEQ	-	-	1	Bert Bakker
0000113636	00113178	DNA	SSCA	-	-	1	Johan den Dunnen
0000113637	00113179	DNA	SSCA	-	-	1	Johan den Dunnen
0000113638	00113180	DNA	SEQ	-	-	1	Bert Bakker
0000113639	00113181	DNA	SSCA;MCA;SEQ	-	-	1	Johan den Dunnen
0000113640	00113182	DNA;RNA	RT-PCR;SEQ	-	-	15	Johan den Dunnen
0000113641	00113183	DNA	SSCA;MCA;SEQ	-	-	1	Johan den Dunnen
0000113642	00113184	DNA	SEQ	-	-	1	Johan den Dunnen
0000113643	00113185	DNA	SEQ	-	-	1	Bert Bakker
0000113644	00113186	DNA	SEQ	-	-	1	Bert Bakker
0000113645	00113187	DNA	SEQ	-	-	1	Bert Bakker
0000113646	00113188	DNA	SEQ	-	-	1	Bert Bakker
0000113647	00113189	DNA	SEQ	-	-	1	Bert Bakker
0000113648	00113190	DNA	SEQ	-	-	1	Bert Bakker
0000113649	00113191	DNA	SEQ	-	-	1	Bert Bakker
0000113650	00113192	DNA	SEQ	-	-	1	Bert Bakker
0000113651	00113193	DNA	SEQ	-	-	1	Bert Bakker
0000113652	00113194	DNA	SEQ	-	-	1	Bert Bakker
0000113653	00113195	DNA	SEQ	-	-	1	Bert Bakker
0000113654	00113196	DNA	SEQ	-	-	1	Bert Bakker
0000113655	00113197	DNA	SEQ	-	-	1	Bert Bakker
0000113656	00113198	DNA	SEQ	-	-	1	Bert Bakker
0000113657	00113199	DNA	SEQ	-	-	1	Bert Bakker
0000113658	00113200	DNA	SEQ	-	-	1	Bert Bakker
0000113659	00113201	DNA	SEQ	-	-	1	Bert Bakker
0000113660	00113202	DNA	SEQ	-	-	1	Bert Bakker
0000113661	00113203	DNA	SEQ	-	-	1	Bert Bakker
0000113662	00113204	DNA	SEQ	-	-	1	Bert Bakker
0000113663	00113205	DNA	SEQ	-	-	1	Bert Bakker
0000113665	00113207	DNA	SEQ	-	-	1	Bert Bakker
0000113666	00113208	DNA	SEQ	-	-	1	Bert Bakker
0000113667	00113209	DNA	SEQ	-	-	1	Bert Bakker

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Global Variome shared LOVD

OTC (ornithine carbamoyltransferase)