NDDVD - Neurodegenerative Diseases Variation Database
TOR1A (torsin family 1, member A (torsin A))
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Curator:
Y Yang
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View all transcripts of gene TOR1A
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View all variants affecting transcripts
View unique variants in gene TOR1A
View all variants in gene TOR1A
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View all individuals with variants in gene TOR1A
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View all diseases associated with gene TOR1A
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View all screenings for gene TOR1A
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All individuals with variants in gene TOR1A
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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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.
17 entries on 1 page. Showing entries 1 - 17.
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Legend
How to query
Individual ID
Reference
Ethnic origin
Remarks
Disease
Phenotype details
Variants
Panel size
Owner
00001042
Ozelius LJ1, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, Buckler AJ, Gusella JF, Breakefield XO.(1997)
-
-
DMD
-
1
1
Y Yang
00001043
Narayanan R, McGrath A, Tritschler C, Manning JM, Harrington MG.(1979)
-
-
DMD
-
1
1
Y Yang
00001044
"
Kabakci K1, Hedrich K, Leung JC, Mitterer M, Vieregge P, Lencer R, Hagenah J, Garrels J, Witt K, Klostermann F, Svetel M, Friedman J, Kostic V, Bressman SB, Breakefield XO(2004)
-
-
DMD
-
1
1
Y Yang
00001045
"
Leung JC1, Klein C, Friedman J, Vieregge P, Jacobs H, Doheny D, Kamm C, DeLeon D, Pramstaller PP, Penney JB, Eisengart M, Jankovic J, Gasser T, Bressman SB, Corey DP, Kramer P(2001)
-
-
DMD
-
1
1
Y Yang
00001046
Calakos N1, Patel VD, Gottron M, Wang G, Tran-Viet KN, Brewington D, Beyer JL, Steffens DC, Krishnan RR, Züchner S.(2010)
-
-
DMD
-
1
1
Y Yang
00001147
Akbari MT1, Zand Z, Shahidi GA, Hamid M.(2012)
-
-
DMD
-
1
1
Y Yang
00001148
Hamid M1, Akbari MT, Shahidi GA, Zand Z.(2011)
-
-
DMD
-
1
1
Y Yang
00001149
Cheng FB1, Feng JC, Ma LY, Miao J, Ott T, Wan XH, Grundmann K.(2014)
-
-
DMD
-
1
1
Y Yang
00001150
Hettich J1, Ryan SD, de Souza ON, Saraiva Macedo Timmers LF, Tsai S, Atai NA, da Hora CC, Zhang X, Kothary R, Snapp E, Ericsson M, Grundmann K, Breakefield XO, Nery FC.(2014)
-
-
DMD
-
1
1
Y Yang
00001151
Hettich J1, Ryan SD, de Souza ON, Saraiva Macedo Timmers LF, Tsai S, Atai NA, da Hora CC, Zhang X, Kothary R, Snapp E, Ericsson M, Grundmann K, Breakefield XO, Nery FC.(2014)
-
-
DMD
-
1
1
Y Yang
00001152
Hettich J1, Ryan SD, de Souza ON, Saraiva Macedo Timmers LF, Tsai S, Atai NA, da Hora CC, Zhang X, Kothary R, Snapp E, Ericsson M, Grundmann K, Breakefield XO, Nery FC.(2014)
-
-
DMD
-
1
1
Y Yang
00001153
Hettich J1, Ryan SD, de Souza ON, Saraiva Macedo Timmers LF, Tsai S, Atai NA, da Hora CC, Zhang X, Kothary R, Snapp E, Ericsson M, Grundmann K, Breakefield XO, Nery FC.(2014)
-
-
DMD
-
1
1
Y Yang
00001154
Vulinovic F1, Lohmann K, Rakovic A, Capetian P, Alvarez-Fischer D, Schmidt A, Wei?bach A, Erogullari A, Kaiser FJ, Wiegers K, Ferbert A, Rolfs A, Klein C, Seibler P.(2014)
-
-
DMD
-
1
1
Y Yang
00001182
Camargo CH1, Camargos ST2, Raskin S3, Cardoso FE2, Teive HA1.(2014)
Brazilian
-
DMD
-
1
1
Y Yang
00005452
Dobričić V et al. (2015)
-
-
DMD
-
1
1
XY Liu
00005453
Wang L et al. (2016)
Chinese
-
DMD
-
1
1
XY Liu
00005454
Wang L et al. (2016)
Chinese
-
DMD
-
1
1
XY Liu
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