NDDVD - Neurodegenerative Diseases Variation Database
PINK1 (PTEN induced putative kinase 1)
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Curator:
Y Yang
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View all transcripts of gene PINK1
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View all variants affecting transcripts
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View all variants in gene PINK1
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View all individuals with variants in gene PINK1
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View all diseases associated with gene PINK1
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View available phenotype columns
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View all screenings for gene PINK1
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All screenings for gene PINK1
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
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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.
142 entries on 2 pages. Showing entries 1 - 100.
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Legend
How to query
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Screening ID
Individual ID
Template
Technique
Variants found
Owner
0000003608
00003608
?
?
1
Y Yang
0000003609
00003609
?
?
1
Y Yang
0000003610
00003610
?
?
1
Y Yang
0000003611
00003611
?
?
1
Y Yang
0000003612
00003612
?
?
1
Y Yang
0000003613
00003613
?
?
1
Y Yang
0000003614
00003614
?
?
1
Y Yang
0000003615
00003615
?
?
1
Y Yang
0000003616
00003616
?
?
1
Y Yang
0000003617
00003617
?
?
1
Y Yang
0000003618
00003618
?
?
1
Y Yang
0000003619
00003619
?
?
1
Y Yang
0000003620
00003620
?
?
1
Y Yang
0000003621
00003621
?
?
1
Y Yang
0000003622
00003622
?
?
1
Y Yang
0000003623
00003623
?
?
1
Y Yang
0000003624
00003624
?
?
1
Y Yang
0000003625
00003625
?
?
1
Y Yang
0000003626
00003626
?
?
1
Y Yang
0000003627
00003627
?
?
1
Y Yang
0000003628
00003628
?
?
1
Y Yang
0000003629
00003629
?
?
1
Y Yang
0000003630
00003630
?
?
1
Y Yang
0000003631
00003631
?
?
1
Y Yang
0000003632
00003632
?
?
1
Y Yang
0000003633
00003633
?
?
1
Y Yang
0000003634
00003634
?
?
1
Y Yang
0000003635
00003635
?
?
1
Y Yang
0000003636
00003636
?
?
1
Y Yang
0000003637
00003637
?
?
1
Y Yang
0000003638
00003638
?
?
1
Y Yang
0000003639
00003639
?
?
1
Y Yang
0000003640
00003640
?
?
1
Y Yang
0000003641
00003641
?
?
1
Y Yang
0000003642
00003642
?
?
1
Y Yang
0000003643
00003643
?
?
1
Y Yang
0000003644
00003644
?
?
1
Y Yang
0000003645
00003645
?
?
1
Y Yang
0000003646
00003646
?
?
1
Y Yang
0000003647
00003647
?
?
1
Y Yang
0000003648
00003648
?
?
1
Y Yang
0000003649
00003649
?
?
1
Y Yang
0000003650
00003650
?
?
1
Y Yang
0000003651
00003651
?
?
1
Y Yang
0000003652
00003652
?
?
1
Y Yang
0000003653
00003653
?
?
1
Y Yang
0000003654
00003654
?
?
1
Y Yang
0000003655
00003655
?
?
1
Y Yang
0000003656
00003656
?
?
1
Y Yang
0000003657
00003657
?
?
1
Y Yang
0000003658
00003658
?
?
1
Y Yang
0000003659
00003659
?
?
1
Y Yang
0000003660
00003660
?
?
1
Y Yang
0000003661
00003661
?
?
1
Y Yang
0000003662
00003662
?
?
1
Y Yang
0000003663
00003663
?
?
1
Y Yang
0000003664
00003664
?
?
1
Y Yang
0000003665
00003665
?
?
1
Y Yang
0000003666
00003666
?
?
1
Y Yang
0000003667
00003667
?
?
1
Y Yang
0000003668
00003668
?
?
1
Y Yang
0000003669
00003669
?
?
1
Y Yang
0000003670
00003670
?
?
1
Y Yang
0000003671
00003671
?
?
1
Y Yang
0000003672
00003672
?
?
1
Y Yang
0000003673
00003673
?
?
1
Y Yang
0000003674
00003674
?
?
1
Y Yang
0000003675
00003675
?
?
1
Y Yang
0000003676
00003676
?
?
1
Y Yang
0000003677
00003677
?
?
1
Y Yang
0000003678
00003678
?
?
1
Y Yang
0000003679
00003679
?
?
1
Y Yang
0000003680
00003680
?
?
1
Y Yang
0000003681
00003681
?
?
1
Y Yang
0000003682
00003682
?
?
1
Y Yang
0000003683
00003683
?
?
1
Y Yang
0000003684
00003684
?
?
1
Y Yang
0000003685
00003685
?
?
1
Y Yang
0000003686
00003686
?
?
1
Y Yang
0000003687
00003687
?
?
1
Y Yang
0000003688
00003688
?
?
1
Y Yang
0000003689
00003689
?
?
1
Y Yang
0000003690
00003690
?
?
1
Y Yang
0000003691
00003691
?
?
1
Y Yang
0000003692
00003692
?
?
1
Y Yang
0000003693
00003693
?
?
1
Y Yang
0000003694
00003694
?
?
1
Y Yang
0000003695
00003695
?
?
1
Y Yang
0000003696
00003696
?
?
1
Y Yang
0000003697
00003697
?
?
1
Y Yang
0000003698
00003698
?
?
1
Y Yang
0000003699
00003699
?
?
1
Y Yang
0000003700
00003700
?
?
1
Y Yang
0000003701
00003701
?
?
1
Y Yang
0000003702
00003702
?
?
1
Y Yang
0000003703
00003703
?
?
1
Y Yang
0000003704
00003704
?
?
1
Y Yang
0000003705
00003705
?
?
1
Y Yang
0000003706
00003706
?
?
1
Y Yang
0000003707
00003707
?
?
1
Y Yang
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