NDDVD - Neurodegenerative Diseases Variation Database
ATP7A (ATPase, Cu++ transporting, alpha polypeptide)
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Curator:
Y Yang
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View all variants affecting transcripts
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View all diseases associated with gene ATP7A
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All screenings for gene ATP7A
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.
163 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
0000002221
00002221
?
?
1
Y Yang
0000002222
00002222
?
?
1
Y Yang
0000002223
00002223
?
?
1
Y Yang
0000002224
00002224
?
?
1
Y Yang
0000002225
00002225
?
?
1
Y Yang
0000002226
00002226
?
?
1
Y Yang
0000002227
00002227
?
?
1
Y Yang
0000002228
00002228
?
?
1
Y Yang
0000002229
00002229
?
?
1
Y Yang
0000002230
00002230
?
?
1
Y Yang
0000002231
00002231
?
?
1
Y Yang
0000002232
00002232
?
?
1
Y Yang
0000002233
00002233
?
?
1
Y Yang
0000002234
00002234
?
?
1
Y Yang
0000002235
00002235
?
?
1
Y Yang
0000002236
00002236
?
?
1
Y Yang
0000002237
00002237
?
?
1
Y Yang
0000002238
00002238
?
?
1
Y Yang
0000002239
00002239
?
?
1
Y Yang
0000002240
00002240
?
?
1
Y Yang
0000002241
00002241
?
?
1
Y Yang
0000002242
00002242
?
?
1
Y Yang
0000002243
00002243
?
?
1
Y Yang
0000002244
00002244
?
?
1
Y Yang
0000002245
00002245
?
?
1
Y Yang
0000002246
00002246
?
?
1
Y Yang
0000002247
00002247
?
?
1
Y Yang
0000002248
00002248
?
?
1
Y Yang
0000002249
00002249
?
?
1
Y Yang
0000002250
00002250
?
?
1
Y Yang
0000002251
00002251
?
?
1
Y Yang
0000002252
00002252
?
?
1
Y Yang
0000002253
00002253
?
?
1
Y Yang
0000002254
00002254
?
?
1
Y Yang
0000002255
00002255
?
?
1
Y Yang
0000002256
00002256
?
?
1
Y Yang
0000002257
00002257
?
?
1
Y Yang
0000002258
00002258
?
?
1
Y Yang
0000002259
00002259
?
?
1
Y Yang
0000002260
00002260
?
?
1
Y Yang
0000002261
00002261
?
?
1
Y Yang
0000002262
00002262
?
?
1
Y Yang
0000002263
00002263
?
?
1
Y Yang
0000002264
00002264
?
?
1
Y Yang
0000002265
00002265
?
?
1
Y Yang
0000002266
00002266
?
?
1
Y Yang
0000002267
00002267
?
?
1
Y Yang
0000002268
00002268
?
?
1
Y Yang
0000002269
00002269
?
?
1
Y Yang
0000002270
00002270
?
?
1
Y Yang
0000002271
00002271
?
?
1
Y Yang
0000002272
00002272
?
?
1
Y Yang
0000002273
00002273
?
?
1
Y Yang
0000002274
00002274
?
?
1
Y Yang
0000002275
00002275
?
?
1
Y Yang
0000002276
00002276
?
?
1
Y Yang
0000002277
00002277
?
?
1
Y Yang
0000002278
00002278
?
?
1
Y Yang
0000002279
00002279
?
?
1
Y Yang
0000002280
00002280
?
?
1
Y Yang
0000002281
00002281
?
?
1
Y Yang
0000002282
00002282
?
?
1
Y Yang
0000002283
00002283
?
?
1
Y Yang
0000002284
00002284
?
?
1
Y Yang
0000002285
00002285
?
?
1
Y Yang
0000002286
00002286
?
?
1
Y Yang
0000002287
00002287
?
?
1
Y Yang
0000002288
00002288
?
?
1
Y Yang
0000002289
00002289
?
?
1
Y Yang
0000002290
00002290
?
?
1
Y Yang
0000002291
00002291
?
?
1
Y Yang
0000002292
00002292
?
?
1
Y Yang
0000002293
00002293
?
?
1
Y Yang
0000002294
00002294
?
?
1
Y Yang
0000002295
00002295
?
?
1
Y Yang
0000002296
00002296
?
?
1
Y Yang
0000002297
00002297
?
?
1
Y Yang
0000002298
00002298
?
?
1
Y Yang
0000002299
00002299
?
?
1
Y Yang
0000002300
00002300
?
?
1
Y Yang
0000002301
00002301
?
?
1
Y Yang
0000002302
00002302
?
?
1
Y Yang
0000002303
00002303
?
?
1
Y Yang
0000002304
00002304
?
?
1
Y Yang
0000002305
00002305
?
?
1
Y Yang
0000002306
00002306
?
?
1
Y Yang
0000002307
00002307
?
?
1
Y Yang
0000002308
00002308
?
?
1
Y Yang
0000002309
00002309
?
?
1
Y Yang
0000002310
00002310
?
?
1
Y Yang
0000002311
00002311
?
?
1
Y Yang
0000002312
00002312
?
?
1
Y Yang
0000002313
00002313
?
?
1
Y Yang
0000002314
00002314
?
?
1
Y Yang
0000002315
00002315
?
?
1
Y Yang
0000002316
00002316
?
?
1
Y Yang
0000002317
00002317
?
?
1
Y Yang
0000002318
00002318
?
?
1
Y Yang
0000002319
00002319
?
?
1
Y Yang
0000002320
00002320
?
?
1
Y Yang
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