NDDVD - Neurodegenerative Diseases Variation Database
PANK2 (pantothenate kinase 2)
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Curator:
Y Yang
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View PANK2 gene homepage
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View all transcripts of gene PANK2
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View all variants affecting transcripts
View unique variants in gene PANK2
View all variants in gene PANK2
Full data view for gene PANK2
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View all individuals with variants in gene PANK2
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View all diseases
View all diseases associated with gene PANK2
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View available phenotype columns
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View all screenings for gene PANK2
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All screenings for gene PANK2
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.
132 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
0000003213
00003213
?
?
1
Y Yang
0000003214
00003214
?
?
1
Y Yang
0000003215
00003215
?
?
1
Y Yang
0000003216
00003216
?
?
1
Y Yang
0000003217
00003217
?
?
1
Y Yang
0000003218
00003218
?
?
1
Y Yang
0000003219
00003219
?
?
1
Y Yang
0000003220
00003220
?
?
1
Y Yang
0000003221
00003221
?
?
1
Y Yang
0000003222
00003222
?
?
1
Y Yang
0000003223
00003223
?
?
1
Y Yang
0000003224
00003224
?
?
1
Y Yang
0000003225
00003225
?
?
1
Y Yang
0000003226
00003226
?
?
1
Y Yang
0000003227
00003227
?
?
1
Y Yang
0000003228
00003228
?
?
1
Y Yang
0000003229
00003229
?
?
1
Y Yang
0000003230
00003230
?
?
1
Y Yang
0000003231
00003231
?
?
1
Y Yang
0000003232
00003232
?
?
1
Y Yang
0000003233
00003233
?
?
1
Y Yang
0000003234
00003234
?
?
1
Y Yang
0000003235
00003235
?
?
1
Y Yang
0000003236
00003236
?
?
1
Y Yang
0000003237
00003237
?
?
1
Y Yang
0000003238
00003238
?
?
1
Y Yang
0000003239
00003239
?
?
1
Y Yang
0000003240
00003240
?
?
1
Y Yang
0000003241
00003241
?
?
1
Y Yang
0000003242
00003242
?
?
1
Y Yang
0000003243
00003243
?
?
1
Y Yang
0000003244
00003244
?
?
1
Y Yang
0000003245
00003245
?
?
1
Y Yang
0000003246
00003246
?
?
1
Y Yang
0000003247
00003247
?
?
1
Y Yang
0000003248
00003248
?
?
1
Y Yang
0000003249
00003249
?
?
1
Y Yang
0000003250
00003250
?
?
1
Y Yang
0000003251
00003251
?
?
1
Y Yang
0000003252
00003252
?
?
1
Y Yang
0000003253
00003253
?
?
1
Y Yang
0000003254
00003254
?
?
1
Y Yang
0000003255
00003255
?
?
1
Y Yang
0000003256
00003256
?
?
1
Y Yang
0000003257
00003257
?
?
1
Y Yang
0000003258
00003258
?
?
1
Y Yang
0000003259
00003259
?
?
1
Y Yang
0000003260
00003260
?
?
1
Y Yang
0000003261
00003261
?
?
1
Y Yang
0000003262
00003262
?
?
1
Y Yang
0000003263
00003263
?
?
1
Y Yang
0000003264
00003264
?
?
1
Y Yang
0000003265
00003265
?
?
1
Y Yang
0000003266
00003266
?
?
1
Y Yang
0000003267
00003267
?
?
1
Y Yang
0000003268
00003268
?
?
1
Y Yang
0000003269
00003269
?
?
1
Y Yang
0000003270
00003270
?
?
1
Y Yang
0000003271
00003271
?
?
1
Y Yang
0000003272
00003272
?
?
1
Y Yang
0000003273
00003273
?
?
1
Y Yang
0000003274
00003274
?
?
1
Y Yang
0000003275
00003275
?
?
1
Y Yang
0000003276
00003276
?
?
1
Y Yang
0000003277
00003277
?
?
1
Y Yang
0000003278
00003278
?
?
1
Y Yang
0000003279
00003279
?
?
1
Y Yang
0000003280
00003280
?
?
1
Y Yang
0000003281
00003281
?
?
1
Y Yang
0000003282
00003282
?
?
1
Y Yang
0000003283
00003283
?
?
1
Y Yang
0000003284
00003284
?
?
1
Y Yang
0000003285
00003285
?
?
1
Y Yang
0000003286
00003286
?
?
1
Y Yang
0000003287
00003287
?
?
1
Y Yang
0000003288
00003288
?
?
1
Y Yang
0000003289
00003289
?
?
1
Y Yang
0000003290
00003290
?
?
1
Y Yang
0000003291
00003291
?
?
1
Y Yang
0000003292
00003292
?
?
1
Y Yang
0000003293
00003293
?
?
1
Y Yang
0000003294
00003294
?
?
1
Y Yang
0000003295
00003295
?
?
1
Y Yang
0000003296
00003296
?
?
1
Y Yang
0000003297
00003297
?
?
1
Y Yang
0000003298
00003298
?
?
1
Y Yang
0000003299
00003299
?
?
1
Y Yang
0000003300
00003300
?
?
1
Y Yang
0000003301
00003301
?
?
1
Y Yang
0000003302
00003302
?
?
1
Y Yang
0000003303
00003303
?
?
1
Y Yang
0000003304
00003304
?
?
1
Y Yang
0000003305
00003305
?
?
1
Y Yang
0000003306
00003306
?
?
1
Y Yang
0000003307
00003307
?
?
1
Y Yang
0000003308
00003308
?
?
1
Y Yang
0000003309
00003309
?
?
1
Y Yang
0000003310
00003310
?
?
1
Y Yang
0000003311
00003311
?
?
1
Y Yang
0000003312
00003312
?
?
1
Y Yang
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