NDDVD - Neurodegenerative Diseases Variation Database
ATP7B (ATPase, Cu++ transporting, beta polypeptide)
LOVD v.3.0 Build 29 [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Y Yang
View all genes
View ATP7B gene homepage
View graphs about the ATP7B gene database
Create a new gene entry
View all transcripts
View all transcripts of gene ATP7B
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene ATP7B
View all variants in gene ATP7B
Full data view for gene ATP7B
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene ATP7B
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene ATP7B
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene ATP7B
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
All screenings for gene ATP7B
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.
164 entries on 2 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
« First
Prev
1
2
Next
Last »
Screening ID
Individual ID
Template
Technique
Variants found
Owner
0000001496
00001496
?
?
1
Y Yang
0000001497
00001497
?
?
1
Y Yang
0000001498
00001498
?
?
1
Y Yang
0000001499
00001499
?
?
1
Y Yang
0000001500
00001500
?
?
1
Y Yang
0000001501
00001501
?
?
1
Y Yang
0000001502
00001502
?
?
1
Y Yang
0000001503
00001503
?
?
1
Y Yang
0000001504
00001504
?
?
1
Y Yang
0000001505
00001505
?
?
1
Y Yang
0000001506
00001506
?
?
1
Y Yang
0000001507
00001507
?
?
1
Y Yang
0000001508
00001508
?
?
1
Y Yang
0000001509
00001509
?
?
1
Y Yang
0000001510
00001510
?
?
1
Y Yang
0000001511
00001511
?
?
1
Y Yang
0000001512
00001512
?
?
1
Y Yang
0000001513
00001513
?
?
1
Y Yang
0000001514
00001514
?
?
1
Y Yang
0000001515
00001515
?
?
1
Y Yang
0000001516
00001516
?
?
1
Y Yang
0000001517
00001517
?
?
1
Y Yang
0000001518
00001518
?
?
1
Y Yang
0000001519
00001519
?
?
1
Y Yang
0000001520
00001520
?
?
1
Y Yang
0000001521
00001521
?
?
1
Y Yang
0000001522
00001522
?
?
1
Y Yang
0000001523
00001523
?
?
1
Y Yang
0000001524
00001524
?
?
1
Y Yang
0000001525
00001525
?
?
1
Y Yang
0000001526
00001526
?
?
1
Y Yang
0000001527
00001527
?
?
1
Y Yang
0000001528
00001528
?
?
1
Y Yang
0000001529
00001529
?
?
1
Y Yang
0000001530
00001530
?
?
1
Y Yang
0000001531
00001531
?
?
1
Y Yang
0000001532
00001532
?
?
1
Y Yang
0000001533
00001533
?
?
1
Y Yang
0000001534
00001534
?
?
1
Y Yang
0000001535
00001535
?
?
1
Y Yang
0000001536
00001536
?
?
1
Y Yang
0000001537
00001537
?
?
1
Y Yang
0000001538
00001538
?
?
1
Y Yang
0000001539
00001539
?
?
1
Y Yang
0000001540
00001540
?
?
1
Y Yang
0000001541
00001541
?
?
1
Y Yang
0000001542
00001542
?
?
1
Y Yang
0000001543
00001543
?
?
1
Y Yang
0000001544
00001544
?
?
1
Y Yang
0000001545
00001545
?
?
1
Y Yang
0000001546
00001546
?
?
1
Y Yang
0000001547
00001547
?
?
1
Y Yang
0000001548
00001548
?
?
1
Y Yang
0000001549
00001549
?
?
1
Y Yang
0000001550
00001550
?
?
1
Y Yang
0000001551
00001551
?
?
1
Y Yang
0000001552
00001552
?
?
1
Y Yang
0000001553
00001553
?
?
1
Y Yang
0000001554
00001554
?
?
1
Y Yang
0000001555
00001555
?
?
1
Y Yang
0000001556
00001556
?
?
1
Y Yang
0000001557
00001557
?
?
1
Y Yang
0000001558
00001558
?
?
1
Y Yang
0000001559
00001559
?
?
1
Y Yang
0000001560
00001560
?
?
1
Y Yang
0000001561
00001561
?
?
1
Y Yang
0000001562
00001562
?
?
1
Y Yang
0000001563
00001563
?
?
1
Y Yang
0000001564
00001564
?
?
1
Y Yang
0000001565
00001565
?
?
1
Y Yang
0000001566
00001566
?
?
1
Y Yang
0000001567
00001567
?
?
1
Y Yang
0000001568
00001568
?
?
1
Y Yang
0000001569
00001569
?
?
1
Y Yang
0000001570
00001570
?
?
1
Y Yang
0000001571
00001571
?
?
1
Y Yang
0000001572
00001572
?
?
1
Y Yang
0000001573
00001573
?
?
1
Y Yang
0000001574
00001574
?
?
1
Y Yang
0000001575
00001575
?
?
1
Y Yang
0000001576
00001576
?
?
1
Y Yang
0000001577
00001577
?
?
1
Y Yang
0000001578
00001578
?
?
1
Y Yang
0000001579
00001579
?
?
1
Y Yang
0000001580
00001580
?
?
1
Y Yang
0000001581
00001581
?
?
1
Y Yang
0000001582
00001582
?
?
1
Y Yang
0000001583
00001583
?
?
1
Y Yang
0000001584
00001584
?
?
1
Y Yang
0000001585
00001585
?
?
1
Y Yang
0000001586
00001586
?
?
1
Y Yang
0000001587
00001587
?
?
1
Y Yang
0000001588
00001588
?
?
1
Y Yang
0000001589
00001589
?
?
1
Y Yang
0000001590
00001590
?
?
1
Y Yang
0000001591
00001591
?
?
1
Y Yang
0000001592
00001592
?
?
1
Y Yang
0000001593
00001593
?
?
1
Y Yang
0000001594
00001594
?
?
1
Y Yang
0000001595
00001595
?
?
1
Y Yang
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
« First
Prev
1
2
Next
Last »
Powered by
LOVD v.3.0
Build 29
LOVD software ©2004-2023
Leiden University Medical Center