NDDVD - Neurodegenerative Diseases Variation Database
TTR (transthyretin)
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Curator:
Y Yang
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View TTR gene homepage
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View all transcripts of gene TTR
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View all variants affecting transcripts
View unique variants in gene TTR
View all variants in gene TTR
Full data view for gene TTR
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View all individuals with variants in gene TTR
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View all diseases
View all diseases associated with gene TTR
Create a new disease information entry
View available phenotype columns
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View all screenings for gene TTR
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Submit new data
All screenings for gene TTR
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.
172 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
0000001198
00001198
?
?
1
Y Yang
0000001199
00001199
?
?
1
Y Yang
0000001200
00001200
?
?
1
Y Yang
0000001201
00001201
?
?
1
Y Yang
0000001202
00001202
?
?
1
Y Yang
0000001203
00001203
?
?
1
Y Yang
0000001204
00001204
?
?
1
Y Yang
0000001205
00001205
?
?
1
Y Yang
0000001206
00001206
?
?
1
Y Yang
0000001207
00001207
?
?
1
Y Yang
0000001208
00001208
?
?
1
Y Yang
0000001209
00001209
?
?
1
Y Yang
0000001210
00001210
?
?
1
Y Yang
0000001211
00001211
?
?
1
Y Yang
0000001212
00001212
?
?
1
Y Yang
0000001213
00001213
?
?
1
Y Yang
0000001214
00001214
?
?
1
Y Yang
0000001215
00001215
?
?
1
Y Yang
0000001216
00001216
?
?
1
Y Yang
0000001217
00001217
?
?
1
Y Yang
0000001218
00001218
?
?
1
Y Yang
0000001219
00001219
?
?
1
Y Yang
0000001220
00001220
?
?
1
Y Yang
0000001221
00001221
?
?
1
Y Yang
0000001222
00001222
?
?
1
Y Yang
0000001223
00001223
?
?
1
Y Yang
0000001224
00001224
?
?
1
Y Yang
0000001225
00001225
?
?
1
Y Yang
0000001226
00001226
?
?
1
Y Yang
0000001227
00001227
?
?
1
Y Yang
0000001228
00001228
?
?
1
Y Yang
0000001229
00001229
?
?
1
Y Yang
0000001230
00001230
?
?
1
Y Yang
0000001231
00001231
?
?
1
Y Yang
0000001232
00001232
?
?
1
Y Yang
0000001233
00001233
?
?
1
Y Yang
0000001234
00001234
?
?
1
Y Yang
0000001235
00001235
?
?
1
Y Yang
0000001236
00001236
?
?
1
Y Yang
0000001237
00001237
?
?
1
Y Yang
0000001238
00001238
?
?
1
Y Yang
0000001239
00001239
?
?
1
Y Yang
0000001240
00001240
?
?
1
Y Yang
0000001241
00001241
?
?
1
Y Yang
0000001242
00001242
?
?
1
Y Yang
0000001243
00001243
?
?
1
Y Yang
0000001244
00001244
?
?
1
Y Yang
0000001245
00001245
?
?
1
Y Yang
0000001246
00001246
?
?
1
Y Yang
0000001247
00001247
?
?
1
Y Yang
0000001248
00001248
?
?
1
Y Yang
0000001249
00001249
?
?
1
Y Yang
0000001250
00001250
?
?
1
Y Yang
0000001251
00001251
?
?
1
Y Yang
0000001252
00001252
?
?
1
Y Yang
0000001253
00001253
?
?
1
Y Yang
0000001254
00001254
?
?
1
Y Yang
0000001255
00001255
?
?
1
Y Yang
0000001256
00001256
?
?
1
Y Yang
0000001257
00001257
?
?
1
Y Yang
0000001258
00001258
?
?
1
Y Yang
0000001259
00001259
?
?
1
Y Yang
0000001260
00001260
?
?
1
Y Yang
0000001261
00001261
?
?
1
Y Yang
0000001262
00001262
?
?
1
Y Yang
0000001263
00001263
?
?
1
Y Yang
0000001264
00001264
?
?
1
Y Yang
0000001265
00001265
?
?
1
Y Yang
0000001266
00001266
?
?
1
Y Yang
0000001267
00001267
?
?
1
Y Yang
0000001268
00001268
?
?
1
Y Yang
0000001269
00001269
?
?
1
Y Yang
0000001270
00001270
?
?
1
Y Yang
0000001271
00001271
?
?
1
Y Yang
0000001272
00001272
?
?
1
Y Yang
0000001273
00001273
?
?
1
Y Yang
0000001274
00001274
?
?
1
Y Yang
0000001275
00001275
?
?
1
Y Yang
0000001276
00001276
?
?
1
Y Yang
0000001277
00001277
?
?
1
Y Yang
0000001278
00001278
?
?
1
Y Yang
0000001279
00001279
?
?
1
Y Yang
0000001280
00001280
?
?
1
Y Yang
0000001281
00001281
?
?
1
Y Yang
0000001282
00001282
?
?
1
Y Yang
0000001283
00001283
?
?
1
Y Yang
0000001284
00001284
?
?
1
Y Yang
0000001285
00001285
?
?
1
Y Yang
0000001286
00001286
?
?
1
Y Yang
0000001287
00001287
?
?
1
Y Yang
0000001288
00001288
?
?
1
Y Yang
0000001289
00001289
?
?
1
Y Yang
0000001290
00001290
?
?
1
Y Yang
0000001291
00001291
?
?
1
Y Yang
0000001292
00001292
?
?
1
Y Yang
0000001293
00001293
?
?
1
Y Yang
0000001294
00001294
?
?
1
Y Yang
0000001295
00001295
?
?
1
Y Yang
0000001296
00001296
?
?
1
Y Yang
0000001297
00001297
?
?
1
Y Yang
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