All screenings for gene OPA1

Legend

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.

291 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		Next ›	Last »

Screening ID	Individual ID	Template	Technique	Variants found	Owner
0000002954	00002954	?	?	1	Y Yang
0000002955	00002955	?	?	1	Y Yang
0000002956	00002956	?	?	1	Y Yang
0000002957	00002957	?	?	1	Y Yang
0000002958	00002958	?	?	1	Y Yang
0000002959	00002959	?	?	1	Y Yang
0000002960	00002960	?	?	1	Y Yang
0000002961	00002961	?	?	1	Y Yang
0000002962	00002962	?	?	1	Y Yang
0000002963	00002963	?	?	1	Y Yang
0000002964	00002964	?	?	1	Y Yang
0000002965	00002965	?	?	1	Y Yang
0000002966	00002966	?	?	1	Y Yang
0000002967	00002967	?	?	1	Y Yang
0000002968	00002968	?	?	1	Y Yang
0000002969	00002969	?	?	1	Y Yang
0000002970	00002970	?	?	1	Y Yang
0000002971	00002971	?	?	1	Y Yang
0000002972	00002972	?	?	1	Y Yang
0000002973	00002973	?	?	1	Y Yang
0000002974	00002974	?	?	1	Y Yang
0000002975	00002975	?	?	1	Y Yang
0000002976	00002976	?	?	1	Y Yang
0000002977	00002977	?	?	1	Y Yang
0000002978	00002978	?	?	1	Y Yang
0000002979	00002979	?	?	1	Y Yang
0000002980	00002980	?	?	1	Y Yang
0000002981	00002981	?	?	1	Y Yang
0000002982	00002982	?	?	1	Y Yang
0000002983	00002983	?	?	1	Y Yang
0000002984	00002984	?	?	1	Y Yang
0000002985	00002985	?	?	1	Y Yang
0000002986	00002986	?	?	1	Y Yang
0000002987	00002987	?	?	1	Y Yang
0000002988	00002988	?	?	1	Y Yang
0000002989	00002989	?	?	1	Y Yang
0000002990	00002990	?	?	1	Y Yang
0000002991	00002991	?	?	1	Y Yang
0000002992	00002992	?	?	1	Y Yang
0000002993	00002993	?	?	1	Y Yang
0000002994	00002994	?	?	1	Y Yang
0000002995	00002995	?	?	1	Y Yang
0000002996	00002996	?	?	1	Y Yang
0000002997	00002997	?	?	1	Y Yang
0000002998	00002998	?	?	1	Y Yang
0000002999	00002999	?	?	1	Y Yang
0000003000	00003000	?	?	1	Y Yang
0000003001	00003001	?	?	1	Y Yang
0000003002	00003002	?	?	1	Y Yang
0000003003	00003003	?	?	1	Y Yang
0000003004	00003004	?	?	1	Y Yang
0000003005	00003005	?	?	1	Y Yang
0000003006	00003006	?	?	1	Y Yang
0000003007	00003007	?	?	1	Y Yang
0000003008	00003008	?	?	1	Y Yang
0000003009	00003009	?	?	1	Y Yang
0000003010	00003010	?	?	1	Y Yang
0000003011	00003011	?	?	1	Y Yang
0000003012	00003012	?	?	1	Y Yang
0000003013	00003013	?	?	1	Y Yang
0000003014	00003014	?	?	1	Y Yang
0000003015	00003015	?	?	1	Y Yang
0000003016	00003016	?	?	1	Y Yang
0000003017	00003017	?	?	1	Y Yang
0000003018	00003018	?	?	1	Y Yang
0000003019	00003019	?	?	1	Y Yang
0000003020	00003020	?	?	1	Y Yang
0000003021	00003021	?	?	1	Y Yang
0000003022	00003022	?	?	1	Y Yang
0000003023	00003023	?	?	1	Y Yang
0000003024	00003024	?	?	1	Y Yang
0000003025	00003025	?	?	1	Y Yang
0000003026	00003026	?	?	1	Y Yang
0000003027	00003027	?	?	1	Y Yang
0000003028	00003028	?	?	1	Y Yang
0000003029	00003029	?	?	1	Y Yang
0000003030	00003030	?	?	1	Y Yang
0000003031	00003031	?	?	1	Y Yang
0000003032	00003032	?	?	1	Y Yang
0000003033	00003033	?	?	1	Y Yang
0000003034	00003034	?	?	1	Y Yang
0000003035	00003035	?	?	1	Y Yang
0000003036	00003036	?	?	1	Y Yang
0000003037	00003037	?	?	1	Y Yang
0000003038	00003038	?	?	1	Y Yang
0000003039	00003039	?	?	1	Y Yang
0000003040	00003040	?	?	1	Y Yang
0000003041	00003041	?	?	1	Y Yang
0000003042	00003042	?	?	1	Y Yang
0000003043	00003043	?	?	1	Y Yang
0000003044	00003044	?	?	1	Y Yang
0000003045	00003045	?	?	1	Y Yang
0000003046	00003046	?	?	1	Y Yang
0000003047	00003047	?	?	1	Y Yang
0000003048	00003048	?	?	1	Y Yang
0000003049	00003049	?	?	1	Y Yang
0000003050	00003050	?	?	1	Y Yang
0000003051	00003051	?	?	1	Y Yang
0000003052	00003052	?	?	1	Y Yang
0000003053	00003053	?	?	1	Y Yang

	Legend	How to query	« First	‹ Prev		1	2	3		Next ›	Last »

NDDVD - Neurodegenerative Diseases Variation Database

OPA1 (optic atrophy 1 (autosomal dominant))