NDDVD - Neurodegenerative Diseases Variation Database
C9orf72 (chromosome 9 open reading frame 72)
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Curator:
XY Liu
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View all transcripts of gene C9orf72
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View all variants in gene C9orf72
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View all individuals with variants in gene C9orf72
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View all diseases associated with gene C9orf72
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All individuals with variants in gene C9orf72
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.
Reference
: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Ethnic origin
: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
Remarks
: Remarks about the individual.
Variants in genes
: The individual has variants for this gene.
Panel size
: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.
How to query this table
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Example
Matches
Text
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space
Text
Arg Ser
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|
Text
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!
Text
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Text
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$
Text
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all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
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!=""
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
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all entries not matching March, 2020
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Date
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all entries before the year 2020
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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.
17 entries on 1 page. Showing entries 1 - 17.
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How to query
Individual ID
Reference
Ethnic origin
Remarks
Disease
Phenotype details
Variants
Panel size
Owner
00000698
van Blitterswijk M, van Es MA, Koppers M, van Rheenen W, Medic J, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH. (2012)
-
-
ALS
-
1
1
Y Yang
00001470
Testi S, Tamburin S, Zanette G, Fabrizi GM.(2015)
-
-
ALS, FTLD
-
1
1
Y Yang
00005340
Liu F et al. (2016)
Chinese Han
-
ALS
-
1
1
XY Liu
00006020
Renton AE et al. (2011)
-
-
ALS, FTLD
-
1
1
XY Liu
00006029
Cooper-Knock J et al. (2012)
English
-
ALS
-
1
1
XY Liu
00006031
Englund E et al. (2012)
-
-
FTLD
-
1
1
XY Liu
00006033
Savica R et al. (2012)
-
-
ALS, FTLD
-
1
1
XY Liu
00006037
Luigetti M et al. (2013)
-
-
ALS, FTLD, PD
-
1
1
XY Liu
00006042
Takada LT et al. (2012)
Brazilian
-
FTLD
-
1
1
XY Liu
00006049
Adeli A et al. (2014)
-
-
FTLD
-
1
1
XY Liu
00006057
Fratta P et al. (2013)
-
-
ALS, FTLD
-
1
1
XY Liu
00006395
Adriano Chiò, Gabriella Restagno, Maura Brunetti, et al. (2012)
Sardinian
-
ALS, FTLD
-
1
1
XY Liu
00006396
Adriano Chiò, Gabriella Restagno, Maura Brunetti, et al. (2012)
Sardinian
-
ALS
-
1
1
XY Liu
00006444
Bin Jiao, Beisha Tang, Xiaoyan Liu, Xinxiang Yan, Lin Zhou, Yi Yang, Junling Wang, Kun Xia, Lu Shen (2014)
Chinese
-
ALS, FTLD
-
1
1
XY Liu
00006479
Fang Liu, et al. (2016)
Han Chinese
-
ALS
-
1
1
XY Liu
00006488
Maria Pia Giannoccaro, et al. (2017)
-
-
ALS, FTLD
-
1
1
XY Liu
00006542
Paola Origone, et al. (2018)
Italian
-
ALS
-
1
1
XY Liu
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