NDDVD - Neurodegenerative Diseases Variation Database
NHLRC1 (NHL repeat containing E3 ubiquitin protein ...)
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Curator:
Y Yang
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View NHLRC1 gene homepage
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View all transcripts of gene NHLRC1
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View all variants affecting transcripts
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View all variants in gene NHLRC1
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View all individuals with variants in gene NHLRC1
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View all diseases associated with gene NHLRC1
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View all screenings for gene NHLRC1
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All screenings for gene NHLRC1
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.
54 entries on 1 page. Showing entries 1 - 54.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Variants found
Owner
0000001986
00001986
?
?
1
Y Yang
0000001987
00001987
?
?
1
Y Yang
0000001988
00001988
?
?
1
Y Yang
0000001989
00001989
?
?
1
Y Yang
0000001990
00001990
?
?
1
Y Yang
0000001991
00001991
?
?
1
Y Yang
0000001992
00001992
?
?
1
Y Yang
0000001993
00001993
?
?
1
Y Yang
0000001994
00001994
?
?
1
Y Yang
0000001995
00001995
?
?
1
Y Yang
0000001996
00001996
?
?
1
Y Yang
0000001997
00001997
?
?
1
Y Yang
0000001998
00001998
?
?
1
Y Yang
0000001999
00001999
?
?
1
Y Yang
0000002000
00002000
?
?
1
Y Yang
0000002001
00002001
?
?
1
Y Yang
0000002002
00002002
?
?
1
Y Yang
0000002003
00002003
?
?
1
Y Yang
0000002004
00002004
?
?
1
Y Yang
0000002005
00002005
?
?
1
Y Yang
0000002006
00002006
?
?
1
Y Yang
0000002007
00002007
?
?
1
Y Yang
0000002008
00002008
?
?
1
Y Yang
0000002009
00002009
?
?
1
Y Yang
0000002010
00002010
?
?
1
Y Yang
0000002011
00002011
?
?
1
Y Yang
0000002012
00002012
?
?
1
Y Yang
0000002013
00002013
?
?
1
Y Yang
0000002014
00002014
?
?
1
Y Yang
0000002015
00002015
?
?
1
Y Yang
0000002016
00002016
?
?
1
Y Yang
0000002017
00002017
?
?
1
Y Yang
0000002018
00002018
?
?
1
Y Yang
0000002019
00002019
?
?
1
Y Yang
0000002020
00002020
?
?
1
Y Yang
0000002021
00002021
?
?
1
Y Yang
0000002022
00002022
?
?
1
Y Yang
0000002023
00002023
?
?
1
Y Yang
0000002024
00002024
?
?
1
Y Yang
0000002025
00002025
?
?
1
Y Yang
0000002026
00002026
?
?
1
Y Yang
0000002027
00002027
?
?
1
Y Yang
0000002028
00002028
?
?
1
Y Yang
0000002035
00002035
?
?
1
Y Yang
0000002036
00002036
?
?
1
Y Yang
0000002037
00002037
?
?
1
Y Yang
0000002038
00002038
?
?
1
Y Yang
0000002039
00002039
?
?
1
Y Yang
0000002040
00002040
?
?
1
Y Yang
0000002041
00002041
?
?
1
Y Yang
0000002042
00002042
?
?
1
Y Yang
0000005646
00005632
?
?
1
XY Liu
0000005647
00005633
?
?
1
XY Liu
0000005648
00005634
?
?
1
XY Liu
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