All screenings for gene GCH1

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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 = RNA (cDNA).
All options:

DNA
RNA = RNA (cDNA)
Protein
? = unknown

Technique: Technique(s) used to identify the sequence variant.
All options:

? = Unknown
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)
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
CSCE = Conformation Sensitive Capillary Electrophoresis
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
ddF = dideoxy Fingerprinting
DSCA = Double-Strand DNA Conformation Analysis
EMC = Enzymatic Mismatch Cleavage
HD = HeteroDuplex analysis
MCA = high-resolution Melting Curve Analysis (hrMCA)
IHC = Immuno-Histo-Chemistry
MAPH = Multiplex Amplifiable Probe Hybridisation
MLPA = Multiplex Ligation-dependent Probe Amplification
SEQ-NG = Next-Generation Sequencing
SEQ-NG-H = Next-Generation Sequencing - Helicos
SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
SEQ-NG-R = Next-Generation Sequencing - Roche/454
SEQ-NG-S = Next-Generation Sequencing - SOLiD
Northern = Northern blotting
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRq = PCR, quantitative
PAGE = Poly-Acrylamide Gel-Electrophoresis
PTT = Protein Truncation Test
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
RT-PCR = Reverse Transcription and PCR
SEQ = SEQuencing
SBE = Single Base Extension
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = SSCA, fluorescent (SSCP)
Southern = Southern blotting
TaqMan = TaqMan assay
Western = Western Blotting

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.

74 entries on 1 page. Showing entries 1 - 74.

Legend

How to query

Screening ID	Individual ID	Template	Technique	Variants found	Owner
0000001047	00001047	?	?	1	Y Yang
0000001048	00001048	?	?	1	Y Yang
0000001049	00001049	?	?	1	Y Yang
0000001050	00001050	?	?	1	Y Yang
0000001051	00001051	?	?	1	Y Yang
0000001052	00001052	?	?	1	Y Yang
0000001053	00001053	?	?	1	Y Yang
0000001054	00001054	?	?	1	Y Yang
0000001055	00001055	?	?	1	Y Yang
0000001056	00001056	?	?	1	Y Yang
0000001057	00001057	?	?	1	Y Yang
0000001058	00001058	?	?	1	Y Yang
0000001059	00001059	?	?	1	Y Yang
0000001060	00001060	?	?	1	Y Yang
0000001061	00001061	?	?	1	Y Yang
0000001062	00001062	?	?	1	Y Yang
0000001063	00001063	?	?	1	Y Yang
0000001064	00001064	?	?	1	Y Yang
0000001065	00001065	?	?	1	Y Yang
0000001066	00001066	?	?	1	Y Yang
0000001067	00001067	?	?	1	Y Yang
0000001068	00001068	?	?	1	Y Yang
0000001069	00001069	?	?	1	Y Yang
0000001070	00001070	?	?	1	Y Yang
0000001071	00001071	?	?	1	Y Yang
0000001072	00001072	?	?	1	Y Yang
0000001073	00001073	?	?	1	Y Yang
0000001074	00001074	?	?	1	Y Yang
0000001075	00001075	?	?	1	Y Yang
0000001076	00001076	?	?	1	Y Yang
0000001077	00001077	?	?	1	Y Yang
0000001078	00001078	?	?	1	Y Yang
0000001079	00001079	?	?	1	Y Yang
0000001080	00001080	?	?	1	Y Yang
0000001081	00001081	?	?	1	Y Yang
0000001082	00001082	?	?	1	Y Yang
0000001083	00001083	?	?	1	Y Yang
0000001084	00001084	?	?	1	Y Yang
0000001085	00001085	?	?	1	Y Yang
0000001086	00001086	?	?	1	Y Yang
0000001087	00001087	?	?	1	Y Yang
0000001088	00001088	?	?	1	Y Yang
0000001089	00001089	?	?	1	Y Yang
0000001090	00001090	?	?	1	Y Yang
0000001091	00001091	?	?	1	Y Yang
0000001092	00001092	?	?	1	Y Yang
0000001093	00001093	?	?	1	Y Yang
0000001094	00001094	?	?	1	Y Yang
0000001095	00001095	?	?	1	Y Yang
0000001096	00001096	?	?	1	Y Yang
0000001097	00001097	?	?	1	Y Yang
0000001098	00001098	?	?	1	Y Yang
0000001099	00001099	?	?	1	Y Yang
0000001155	00001155	?	?	1	Y Yang
0000001156	00001156	?	?	1	Y Yang
0000001157	00001157	?	?	1	Y Yang
0000001158	00001158	?	?	1	Y Yang
0000001159	00001159	?	?	1	Y Yang
0000001160	00001160	?	?	1	Y Yang
0000001161	00001161	?	?	1	Y Yang
0000001162	00001162	?	?	1	Y Yang
0000001163	00001163	?	?	1	Y Yang
0000001164	00001164	?	?	1	Y Yang
0000001165	00001165	?	?	1	Y Yang
0000001166	00001166	?	?	1	Y Yang
0000001167	00001167	?	?	1	Y Yang
0000001168	00001168	?	?	1	Y Yang
0000001169	00001169	?	?	1	Y Yang
0000001183	00001183	?	?	1	Y Yang
0000001184	00001184	?	?	1	Y Yang
0000001185	00001185	?	?	1	Y Yang
0000001186	00001186	?	?	1	Y Yang
0000001187	00001187	?	?	1	Y Yang
0000001188	00001188	?	?	1	Y Yang

Legend

How to query

NDDVD - Neurodegenerative Diseases Variation Database

GCH1 (GTP cyclohydrolase 1)