NDDVD - Neurodegenerative Diseases Variation Database
ERCC6 (excision repair cross-complementation group 6)
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Curator:
Y Yang
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View ERCC6 gene homepage
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View all transcripts of gene ERCC6
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View all variants affecting transcripts
View unique variants in gene ERCC6
View all variants in gene ERCC6
Full data view for gene ERCC6
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View all individuals with variants in gene ERCC6
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View all diseases associated with gene ERCC6
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View available phenotype columns
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View all screenings for gene ERCC6
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All screenings for gene ERCC6
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.
73 entries on 1 page. Showing entries 1 - 73.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Variants found
Owner
0000000890
00000890
?
?
1
Y Yang
0000000891
00000891
?
?
1
Y Yang
0000000892
00000892
?
?
1
Y Yang
0000000893
00000893
?
?
1
Y Yang
0000000894
00000894
?
?
1
Y Yang
0000000895
00000895
?
?
1
Y Yang
0000000896
00000896
?
?
1
Y Yang
0000000897
00000897
?
?
1
Y Yang
0000000898
00000898
?
?
1
Y Yang
0000000899
00000899
?
?
1
Y Yang
0000000900
00000900
?
?
1
Y Yang
0000000901
00000901
?
?
1
Y Yang
0000000902
00000902
?
?
1
Y Yang
0000000903
00000903
?
?
1
Y Yang
0000000904
00000904
?
?
1
Y Yang
0000000905
00000905
?
?
1
Y Yang
0000000906
00000906
?
?
1
Y Yang
0000000907
00000907
?
?
1
Y Yang
0000000908
00000908
?
?
1
Y Yang
0000000909
00000909
?
?
1
Y Yang
0000000910
00000910
?
?
1
Y Yang
0000000911
00000911
?
?
1
Y Yang
0000000912
00000912
?
?
1
Y Yang
0000000913
00000913
?
?
1
Y Yang
0000000914
00000914
?
?
1
Y Yang
0000000915
00000915
?
?
1
Y Yang
0000000916
00000916
?
?
1
Y Yang
0000000917
00000917
?
?
1
Y Yang
0000000918
00000918
?
?
1
Y Yang
0000000919
00000919
?
?
1
Y Yang
0000000920
00000920
?
?
1
Y Yang
0000000921
00000921
?
?
1
Y Yang
0000000922
00000922
?
?
1
Y Yang
0000000923
00000923
?
?
1
Y Yang
0000000924
00000924
?
?
1
Y Yang
0000000925
00000925
?
?
1
Y Yang
0000000926
00000926
?
?
1
Y Yang
0000000927
00000927
?
?
1
Y Yang
0000000928
00000928
?
?
1
Y Yang
0000000929
00000929
?
?
1
Y Yang
0000000930
00000930
?
?
1
Y Yang
0000000931
00000931
?
?
1
Y Yang
0000000932
00000932
?
?
1
Y Yang
0000000933
00000933
?
?
1
Y Yang
0000000934
00000934
?
?
1
Y Yang
0000000935
00000935
?
?
1
Y Yang
0000000936
00000936
?
?
1
Y Yang
0000000937
00000937
?
?
1
Y Yang
0000000938
00000938
?
?
1
Y Yang
0000000939
00000939
?
?
1
Y Yang
0000000940
00000940
?
?
1
Y Yang
0000000941
00000941
?
?
1
Y Yang
0000000942
00000942
?
?
1
Y Yang
0000000943
00000943
?
?
1
Y Yang
0000000944
00000944
?
?
1
Y Yang
0000000945
00000945
?
?
1
Y Yang
0000000946
00000946
?
?
1
Y Yang
0000000947
00000947
?
?
1
Y Yang
0000000948
00000948
?
?
1
Y Yang
0000000949
00000949
?
?
1
Y Yang
0000000950
00000950
?
?
1
Y Yang
0000000951
00000951
?
?
1
Y Yang
0000000952
00000952
?
?
1
Y Yang
0000000953
00000953
?
?
1
Y Yang
0000000954
00000954
?
?
1
Y Yang
0000000955
00000955
?
?
1
Y Yang
0000000956
00000956
?
?
1
Y Yang
0000000957
00000957
?
?
1
Y Yang
0000000983
00000983
?
?
1
Y Yang
0000000984
00000984
?
?
1
Y Yang
0000000985
00000985
?
?
1
Y Yang
0000005436
00005425
?
?
1
XY Liu
0000005437
00005426
?
?
1
XY Liu
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