All screenings for gene ASPA

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.

80 entries on 1 page. Showing entries 1 - 80.

Legend

How to query

Screening ID	Individual ID	Template	Technique	Variants found	Owner
0000000804	00000804	?	?	1	Y Yang
0000000805	00000805	?	?	1	Y Yang
0000000806	00000806	?	?	1	Y Yang
0000000807	00000807	?	?	1	Y Yang
0000000808	00000808	?	?	1	Y Yang
0000000809	00000809	?	?	1	Y Yang
0000000810	00000810	?	?	1	Y Yang
0000000811	00000811	?	?	1	Y Yang
0000000812	00000812	?	?	1	Y Yang
0000000813	00000813	?	?	1	Y Yang
0000000814	00000814	?	?	1	Y Yang
0000000815	00000815	?	?	1	Y Yang
0000000816	00000816	?	?	1	Y Yang
0000000817	00000817	?	?	1	Y Yang
0000000818	00000818	?	?	1	Y Yang
0000000819	00000819	?	?	1	Y Yang
0000000820	00000820	?	?	1	Y Yang
0000000821	00000821	?	?	1	Y Yang
0000000822	00000822	?	?	1	Y Yang
0000000823	00000823	?	?	1	Y Yang
0000000824	00000824	?	?	1	Y Yang
0000000825	00000825	?	?	1	Y Yang
0000000826	00000826	?	?	1	Y Yang
0000000827	00000827	?	?	1	Y Yang
0000000828	00000828	?	?	1	Y Yang
0000000829	00000829	?	?	1	Y Yang
0000000830	00000830	?	?	1	Y Yang
0000000831	00000831	?	?	1	Y Yang
0000000832	00000832	?	?	1	Y Yang
0000000833	00000833	?	?	1	Y Yang
0000000834	00000834	?	?	1	Y Yang
0000000835	00000835	?	?	1	Y Yang
0000000836	00000836	?	?	1	Y Yang
0000000837	00000837	?	?	1	Y Yang
0000000838	00000838	?	?	1	Y Yang
0000000839	00000839	?	?	1	Y Yang
0000000840	00000840	?	?	1	Y Yang
0000000841	00000841	?	?	1	Y Yang
0000000842	00000842	?	?	1	Y Yang
0000000843	00000843	?	?	1	Y Yang
0000000844	00000844	?	?	1	Y Yang
0000000845	00000845	?	?	1	Y Yang
0000000846	00000846	?	?	1	Y Yang
0000000847	00000847	?	?	1	Y Yang
0000000848	00000848	?	?	1	Y Yang
0000000849	00000849	?	?	1	Y Yang
0000000850	00000850	?	?	1	Y Yang
0000000851	00000851	?	?	1	Y Yang
0000000852	00000852	?	?	1	Y Yang
0000000853	00000853	?	?	1	Y Yang
0000000854	00000854	?	?	1	Y Yang
0000000855	00000855	?	?	1	Y Yang
0000000856	00000856	?	?	1	Y Yang
0000000857	00000857	?	?	1	Y Yang
0000000858	00000858	?	?	1	Y Yang
0000000859	00000859	?	?	1	Y Yang
0000000860	00000860	?	?	1	Y Yang
0000000861	00000861	?	?	1	Y Yang
0000000862	00000862	?	?	1	Y Yang
0000000863	00000863	?	?	1	Y Yang
0000000864	00000864	?	?	1	Y Yang
0000000865	00000865	?	?	1	Y Yang
0000000866	00000866	?	?	1	Y Yang
0000000867	00000867	?	?	1	Y Yang
0000005413	00005408	?	?	1	XY Liu
0000005414	00005409	?	?	1	XY Liu
0000005415	00005410	?	?	1	XY Liu
0000005416	00005411	?	?	1	XY Liu
0000005417	00005412	?	?	1	XY Liu
0000005418	00005413	?	?	1	XY Liu
0000005419	00005414	?	?	1	XY Liu
0000005420	00005415	?	?	1	XY Liu
0000005421	00005416	?	?	1	XY Liu
0000005422	00005417	?	?	1	XY Liu
0000005423	00005418	?	?	1	XY Liu
0000005424	00005419	?	?	1	XY Liu
0000005425	00005420	?	?	6	XY Liu
0000005431	00005421	?	?	2	XY Liu
0000005433	00005422	?	?	1	XY Liu
0000005434	00005423	?	?	1	XY Liu

Legend

How to query

NDDVD - Neurodegenerative Diseases Variation Database

ASPA (aspartoacylase)