NDDVD - Neurodegenerative Diseases Variation Database
PINK1 (PTEN induced putative kinase 1)
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Curator:
Y Yang
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View all variants affecting transcripts
View unique variants in gene PINK1
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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All individuals with variants in 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.
Reference
: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Ethnic origin
: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
Remarks
: Remarks about the individual.
Variants in genes
: The individual has variants for this gene.
Panel size
: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.
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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Individual ID
Reference
Ethnic origin
Remarks
Disease
Phenotype details
Variants
Panel size
Owner
00003608
-
-
-
PD
-
1
1
Y Yang
00003609
-
-
-
PD
-
1
1
Y Yang
00003610
-
-
-
PD
-
1
1
Y Yang
00003611
-
-
-
PD
-
1
1
Y Yang
00003612
-
-
-
PD
-
1
1
Y Yang
00003613
-
-
-
PD
-
1
1
Y Yang
00003614
-
-
-
PD
-
1
1
Y Yang
00003615
-
-
-
PD
-
1
1
Y Yang
00003616
-
-
-
PD
-
1
1
Y Yang
00003617
-
-
-
PD
-
1
1
Y Yang
00003618
-
-
-
PD
-
1
1
Y Yang
00003619
-
-
-
PD
-
1
1
Y Yang
00003620
-
-
-
PD
-
1
1
Y Yang
00003621
-
-
-
PD
-
1
1
Y Yang
00003622
-
-
-
PD
-
1
1
Y Yang
00003623
-
-
-
PD
-
1
1
Y Yang
00003624
-
-
-
PD
-
1
1
Y Yang
00003625
-
-
-
PD
-
1
1
Y Yang
00003626
-
-
-
PD
-
1
1
Y Yang
00003627
-
-
-
PD
-
1
1
Y Yang
00003628
-
-
-
PD
-
1
1
Y Yang
00003629
-
-
-
PD
-
1
1
Y Yang
00003630
-
-
-
PD
-
1
1
Y Yang
00003631
-
-
-
PD
-
1
1
Y Yang
00003632
-
-
-
PD
-
1
1
Y Yang
00003633
-
-
-
PD
-
1
1
Y Yang
00003634
-
-
-
PD
-
1
1
Y Yang
00003635
-
-
-
PD
-
1
1
Y Yang
00003636
-
-
-
PD
-
1
1
Y Yang
00003637
-
-
-
PD
-
1
1
Y Yang
00003638
-
-
-
PD
-
1
1
Y Yang
00003639
-
-
-
PD
-
1
1
Y Yang
00003640
-
-
-
PD
-
1
1
Y Yang
00003641
-
-
-
PD
-
1
1
Y Yang
00003642
-
-
-
PD
-
1
1
Y Yang
00003643
-
-
-
PD
-
1
1
Y Yang
00003644
-
-
-
PD
-
1
1
Y Yang
00003645
-
-
-
PD
-
1
1
Y Yang
00003646
-
-
-
PD
-
1
1
Y Yang
00003647
-
-
-
PD
-
1
1
Y Yang
00003648
-
-
-
PD
-
1
1
Y Yang
00003649
-
-
-
PD
-
1
1
Y Yang
00003650
-
-
-
PD
-
1
1
Y Yang
00003651
-
-
-
PD
-
1
1
Y Yang
00003652
-
-
-
PD
-
1
1
Y Yang
00003653
-
-
-
PD
-
1
1
Y Yang
00003654
-
-
-
PD
-
1
1
Y Yang
00003655
-
-
-
PD
-
1
1
Y Yang
00003656
-
-
-
PD
-
1
1
Y Yang
00003657
-
-
-
PD
-
1
1
Y Yang
00003658
-
-
-
PD
-
1
1
Y Yang
00003659
-
-
-
PD
-
1
1
Y Yang
00003660
-
-
-
PD
-
1
1
Y Yang
00003661
-
-
-
PD
-
1
1
Y Yang
00003662
-
-
-
PD
-
1
1
Y Yang
00003663
-
-
-
PD
-
1
1
Y Yang
00003664
-
-
-
PD
-
1
1
Y Yang
00003665
-
-
-
PD
-
1
1
Y Yang
00003666
-
-
-
PD
-
1
1
Y Yang
00003667
-
-
-
PD
-
1
1
Y Yang
00003668
-
-
-
PD
-
1
1
Y Yang
00003669
-
-
-
PD
-
1
1
Y Yang
00003670
-
-
-
PD
-
1
1
Y Yang
00003671
-
-
-
PD
-
1
1
Y Yang
00003672
-
-
-
PD
-
1
1
Y Yang
00003673
-
-
-
PD
-
1
1
Y Yang
00003674
-
-
-
PD
-
1
1
Y Yang
00003675
-
-
-
PD
-
1
1
Y Yang
00003676
-
-
-
PD
-
1
1
Y Yang
00003677
-
-
-
PD
-
1
1
Y Yang
00003678
-
-
-
PD
-
1
1
Y Yang
00003679
-
-
-
PD
-
1
1
Y Yang
00003680
-
-
-
PD
-
1
1
Y Yang
00003681
-
-
-
PD
-
1
1
Y Yang
00003682
-
-
-
PD
-
1
1
Y Yang
00003683
-
-
-
PD
-
1
1
Y Yang
00003684
-
-
-
PD
-
1
1
Y Yang
00003685
-
-
-
PD
-
1
1
Y Yang
00003686
-
-
-
PD
-
1
1
Y Yang
00003687
-
-
-
PD
-
1
1
Y Yang
00003688
-
-
-
PD
-
1
1
Y Yang
00003689
-
-
-
PD
-
1
1
Y Yang
00003690
-
-
-
PD
-
1
1
Y Yang
00003691
-
-
-
PD
-
1
1
Y Yang
00003692
-
-
-
PD
-
1
1
Y Yang
00003693
-
-
-
PD
-
1
1
Y Yang
00003694
-
-
-
PD
-
1
1
Y Yang
00003695
-
-
-
PD
-
1
1
Y Yang
00003696
-
-
-
PD
-
1
1
Y Yang
00003697
-
-
-
PD
-
1
1
Y Yang
00003698
-
-
-
PD
-
1
1
Y Yang
00003699
-
-
-
PD
-
1
1
Y Yang
00003700
-
-
-
PD
-
1
1
Y Yang
00003701
-
-
-
PD
-
1
1
Y Yang
00003702
-
-
-
PD
-
1
1
Y Yang
00003703
-
-
-
PD
-
1
1
Y Yang
00003704
-
-
-
PD
-
1
1
Y Yang
00003705
-
-
-
PD
-
1
1
Y Yang
00003706
-
-
-
PD
-
1
1
Y Yang
00003707
-
-
-
PD
-
1
1
Y Yang
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