All screenings for gene PSEN1

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.

380 entries on 4 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4		Next ›	Last »

Screening ID	Individual ID	Template	Technique	Variants found	Owner
0000000109	00000109	?	?	1	Y Yang
0000000110	00000110	?	?	1	Y Yang
0000000111	00000111	?	?	1	Y Yang
0000000112	00000112	?	?	1	Y Yang
0000000113	00000113	?	?	1	Y Yang
0000000114	00000114	?	?	1	Y Yang
0000000115	00000115	?	?	1	Y Yang
0000000116	00000116	?	?	1	Y Yang
0000000117	00000117	?	?	1	Y Yang
0000000118	00000118	?	?	1	Y Yang
0000000119	00000119	?	?	1	Y Yang
0000000120	00000120	?	?	1	Y Yang
0000000121	00000121	?	?	1	Y Yang
0000000122	00000122	?	?	1	Y Yang
0000000123	00000123	?	?	1	Y Yang
0000000124	00000124	?	?	1	Y Yang
0000000125	00000125	?	?	1	Y Yang
0000000126	00000126	?	?	1	Y Yang
0000000127	00000127	?	?	1	Y Yang
0000000128	00000128	?	?	1	Y Yang
0000000129	00000129	?	?	1	Y Yang
0000000130	00000130	?	?	1	Y Yang
0000000131	00000131	?	?	1	Y Yang
0000000132	00000132	?	?	1	Y Yang
0000000133	00000133	?	?	1	Y Yang
0000000134	00000134	?	?	1	Y Yang
0000000135	00000135	?	?	1	Y Yang
0000000136	00000136	?	?	1	Y Yang
0000000137	00000137	?	?	1	Y Yang
0000000138	00000138	?	?	1	Y Yang
0000000139	00000139	?	?	1	Y Yang
0000000140	00000140	?	?	1	Y Yang
0000000141	00000141	?	?	1	Y Yang
0000000142	00000142	?	?	1	Y Yang
0000000143	00000143	?	?	1	Y Yang
0000000144	00000144	?	?	1	Y Yang
0000000145	00000145	?	?	1	Y Yang
0000000146	00000146	?	?	1	Y Yang
0000000147	00000147	?	?	1	Y Yang
0000000148	00000148	?	?	1	Y Yang
0000000149	00000149	?	?	1	Y Yang
0000000150	00000150	?	?	1	Y Yang
0000000151	00000151	?	?	1	Y Yang
0000000152	00000152	?	?	1	Y Yang
0000000153	00000153	?	?	1	Y Yang
0000000154	00000154	?	?	1	Y Yang
0000000155	00000155	?	?	1	Y Yang
0000000156	00000156	?	?	1	Y Yang
0000000157	00000157	?	?	1	Y Yang
0000000158	00000158	?	?	1	Y Yang
0000000159	00000159	?	?	1	Y Yang
0000000160	00000160	?	?	1	Y Yang
0000000161	00000161	?	?	1	Y Yang
0000000162	00000162	?	?	1	Y Yang
0000000163	00000163	?	?	1	Y Yang
0000000164	00000164	?	?	1	Y Yang
0000000165	00000165	?	?	1	Y Yang
0000000166	00000166	?	?	1	Y Yang
0000000167	00000167	?	?	1	Y Yang
0000000168	00000168	?	?	1	Y Yang
0000000169	00000169	?	?	1	Y Yang
0000000170	00000170	?	?	1	Y Yang
0000000171	00000171	?	?	1	Y Yang
0000000172	00000172	?	?	1	Y Yang
0000000173	00000173	?	?	1	Y Yang
0000000174	00000174	?	?	1	Y Yang
0000000175	00000175	?	?	1	Y Yang
0000000176	00000176	?	?	1	Y Yang
0000000177	00000177	?	?	1	Y Yang
0000000178	00000178	?	?	1	Y Yang
0000000179	00000179	?	?	1	Y Yang
0000000180	00000180	?	?	1	Y Yang
0000000181	00000181	?	?	1	Y Yang
0000000182	00000182	?	?	1	Y Yang
0000000183	00000183	?	?	1	Y Yang
0000000184	00000184	?	?	1	Y Yang
0000000185	00000185	?	?	1	Y Yang
0000000186	00000186	?	?	1	Y Yang
0000000187	00000187	?	?	1	Y Yang
0000000188	00000188	?	?	1	Y Yang
0000000189	00000189	?	?	1	Y Yang
0000000190	00000190	?	?	1	Y Yang
0000000191	00000191	?	?	1	Y Yang
0000000192	00000192	?	?	1	Y Yang
0000000193	00000193	?	?	1	Y Yang
0000000194	00000194	?	?	1	Y Yang
0000000195	00000195	?	?	1	Y Yang
0000000196	00000196	?	?	1	Y Yang
0000000197	00000197	?	?	1	Y Yang
0000000198	00000198	?	?	1	Y Yang
0000000211	00000211	?	?	1	Y Yang
0000000212	00000212	?	?	1	Y Yang
0000000213	00000213	?	?	1	Y Yang
0000000214	00000214	?	?	1	Y Yang
0000000215	00000215	?	?	1	Y Yang
0000000216	00000216	?	?	1	Y Yang
0000000217	00000217	?	?	1	Y Yang
0000000218	00000218	?	?	1	Y Yang
0000000219	00000219	?	?	1	Y Yang
0000000220	00000220	?	?	1	Y Yang

	Legend	How to query	« First	‹ Prev		1	2	3	4		Next ›	Last »

NDDVD - Neurodegenerative Diseases Variation Database

PSEN1 (presenilin 1)