NDDVD - Neurodegenerative Diseases Variation Database
SMN1 (survival of motor neuron 1, telomeric)
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Curator:
Y Yang
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View SMN1 gene homepage
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View all transcripts of gene SMN1
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View all variants affecting transcripts
View unique variants in gene SMN1
View all variants in gene SMN1
Full data view for gene SMN1
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View all individuals with variants in gene SMN1
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View all diseases
View all diseases associated with gene SMN1
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View available phenotype columns
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View all screenings for gene SMN1
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All screenings for gene SMN1
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.
55 entries on 1 page. Showing entries 1 - 55.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Variants found
Owner
0000004301
00004301
?
?
1
Y Yang
0000004302
00004302
?
?
1
Y Yang
0000004303
00004303
?
?
1
Y Yang
0000004304
00004304
?
?
1
Y Yang
0000004305
00004305
?
?
1
Y Yang
0000004306
00004306
?
?
1
Y Yang
0000004307
00004307
?
?
1
Y Yang
0000004308
00004308
?
?
1
Y Yang
0000004309
00004309
?
?
1
Y Yang
0000004310
00004310
?
?
1
Y Yang
0000004311
00004311
?
?
1
Y Yang
0000004312
00004312
?
?
1
Y Yang
0000004313
00004313
?
?
1
Y Yang
0000004314
00004314
?
?
1
Y Yang
0000004315
00004315
?
?
1
Y Yang
0000004316
00004316
?
?
1
Y Yang
0000004317
00004317
?
?
1
Y Yang
0000004318
00004318
?
?
1
Y Yang
0000004350
00004350
?
?
1
Y Yang
0000004354
00004354
?
?
1
Y Yang
0000004355
00004355
?
?
1
Y Yang
0000004356
00004356
?
?
1
Y Yang
0000004357
00004357
?
?
1
Y Yang
0000004358
00004358
?
?
1
Y Yang
0000004359
00004359
?
?
1
Y Yang
0000004360
00004360
?
?
1
Y Yang
0000004361
00004361
?
?
1
Y Yang
0000004362
00004362
?
?
1
Y Yang
0000004363
00004363
?
?
1
Y Yang
0000004364
00004364
?
?
1
Y Yang
0000004365
00004365
?
?
1
Y Yang
0000004366
00004366
?
?
1
Y Yang
0000004367
00004367
?
?
1
Y Yang
0000004368
00004368
?
?
1
Y Yang
0000004369
00004369
?
?
1
Y Yang
0000004370
00004370
?
?
1
Y Yang
0000004371
00004371
?
?
1
Y Yang
0000004372
00004372
?
?
1
Y Yang
0000004373
00004373
?
?
1
Y Yang
0000004374
00004374
?
?
1
Y Yang
0000004375
00004375
?
?
1
Y Yang
0000004376
00004376
?
?
1
Y Yang
0000004377
00004377
?
?
1
Y Yang
0000004378
00004378
?
?
1
Y Yang
0000005870
00005853
?
?
1
XY Liu
0000005871
00005854
?
?
1
XY Liu
0000005872
00005855
?
?
1
XY Liu
0000005873
00005856
?
?
1
XY Liu
0000005874
00005857
?
?
1
XY Liu
0000005875
00005858
?
?
1
XY Liu
0000005876
00005859
?
?
1
XY Liu
0000005877
00005860
?
?
1
XY Liu
0000005880
00005863
?
?
1
XY Liu
0000005881
00005864
?
?
1
XY Liu
0000005882
00005865
?
?
1
XY Liu
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