Global Variome shared LOVD
NARS (asparaginyl-tRNA synthetase)
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Global Variome, with Curator vacancy
View all genes
View NARS gene homepage
View graphs about the NARS gene database
Create a new gene entry
View all transcripts
View all transcripts of gene NARS
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene NARS
View all variants in gene NARS
Full data view for gene NARS
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene NARS
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene NARS
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene NARS
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Phenotypes for disease #00494 (F7D (deficiency, factor VII (F7D)), OMIM:227500)
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.
Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Diagnosis/Initial
: initial diagnosis, before molecular testing
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
Protein
: FVII protein data, format FVII_Ag: #, FVII_C:# (FVII_C: <1 = <1%)
Inheritance
: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:
Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable
Age/Examination
: age at which the individual was examined.
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Diagnosis
: age diagnosis was confirmed
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Onset
: Age first symptoms disease appeared in individual:
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Phenotype/Onset
: individual's phenotype at Age/Onset described using HPO
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.
332 entries on 4 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
Legend
How to query
« First
Prev
1
2
3
4
Next
Last »
Phenotype ID
Phenotype details
Diagnosis/Initial
Diagnosis/Definite
Protein
Inheritance
Age/Examination
Age/Diagnosis
Age/Onset
Phenotype/Onset
Owner
Individual ID
0000060410
Factor VII deficiency (OMIM:227500)
-
-
-
Familial, autosomal recessive
-
-
-
-
Daniel Trujillano
00080841
0000074307
severe
-
-
FVII_Ag: <1, FVII_C: <1
Unknown
-
-
-
-
Pavithra Rallapalli
00096032
0000074308
severe
-
-
FVII_Ag: <1, FVII_C: <1
Unknown
-
-
-
-
Pavithra Rallapalli
00096033
0000074309
severe
-
-
FVII_Ag: -, FVII_C: 2
Unknown
-
-
-
-
Pavithra Rallapalli
00096034
0000074310
mild
-
-
FVII_Ag: <3, FVII_C: <1?
Unknown
-
-
-
-
Pavithra Rallapalli
00096035
0000074311
severe
-
-
FVII_Ag: <1, FVII_C: <1
Unknown
-
-
-
-
Pavithra Rallapalli
00096036
0000074312
asymptomatic
-
-
FVII_Ag: 38, FVII_C: 23
Unknown
-
-
-
-
Pavithra Rallapalli
00096037
0000074313
asymptomatic
-
-
FVII_Ag: 20, FVII_C: 16
Unknown
-
-
-
-
Pavithra Rallapalli
00096038
0000074314
asymptomatic
-
-
FVII_Ag: 21, FVII_C: 33
Unknown
-
-
-
-
Pavithra Rallapalli
00096039
0000074315
mild
-
-
FVII_Ag: -, FVII_C: 2
Unknown
-
-
-
-
Pavithra Rallapalli
00096040
0000074316
unknown
-
-
FVII_Ag: -, FVII_C: 08-12
Unknown
-
-
-
-
Pavithra Rallapalli
00096041
0000074317
severe
-
-
FVII_Ag: <1, FVII_C: <1
Unknown
-
-
-
-
Pavithra Rallapalli
00096042
0000074318
severe
-
-
FVII_Ag: <0.0001, FVII_C: <0.01
Unknown
-
-
-
-
Pavithra Rallapalli
00096043
0000074319
asymptomatic
-
-
FVII_Ag: 11, FVII_C: 10.7
Unknown
-
-
-
-
Pavithra Rallapalli
00096044
0000074320
asymptomatic
-
-
FVII_Ag: -, FVII_C: 11
Unknown
-
-
-
-
Pavithra Rallapalli
00096045
0000074321
unknown
-
-
FVII_Ag: -, FVII_C: 8
Unknown
-
-
-
-
Pavithra Rallapalli
00096046
0000074322
mild
-
-
FVII_Ag: 3, FVII_C: 6
Unknown
-
-
-
-
Pavithra Rallapalli
00096047
0000074323
mild
-
-
FVII_Ag: 17, FVII_C: <1
Unknown
-
-
-
-
Pavithra Rallapalli
00096048
0000074324
unknown
-
-
FVII_Ag: -, FVII_C: <1
Unknown
-
-
-
-
Pavithra Rallapalli
00096049
0000074325
severe
-
-
-
Unknown
-
-
-
-
Pavithra Rallapalli
00096050
0000074326
Severe
-
-
FVII_Ag: -, FVII_C: 32
Unknown
-
-
-
-
Pavithra Rallapalli
00096051
0000074327
asymptomatic
-
-
FVII_Ag: 34, FVII_C: 28
Unknown
-
-
-
-
Pavithra Rallapalli
00096052
0000074328
mild
-
-
FVII_Ag: 16, FVII_C: 30
Unknown
-
-
-
-
Pavithra Rallapalli
00096053
0000074329
severe
-
-
FVII_Ag: 77, FVII_C: <1
Unknown
-
-
-
-
Pavithra Rallapalli
00096054
0000074330
severe
-
-
FVII_Ag: 30, FVII_C: <1
Unknown
-
-
-
-
Pavithra Rallapalli
00096055
0000074331
mild
-
-
FVII_Ag: 16, FVII_C: 30
Unknown
-
-
-
-
Pavithra Rallapalli
00096056
0000074332
mild
-
-
FVII_Ag: -, FVII_C: 2
Unknown
-
-
-
-
Pavithra Rallapalli
00096057
0000074333
severe
-
-
FVII_Ag: 19, FVII_C: 1
Unknown
-
-
-
-
Pavithra Rallapalli
00096058
0000074334
unknown
-
-
FVII_Ag: -, FVII_C: 10
Unknown
-
-
-
-
Pavithra Rallapalli
00096059
0000074335
severe
-
-
FVII_Ag: <1, FVII_C: <1
Unknown
-
-
-
-
Pavithra Rallapalli
00096060
0000074336
mild
-
-
FVII_Ag: -, FVII_C: 4
Unknown
-
-
-
-
Pavithra Rallapalli
00096061
0000074337
severe
-
-
FVII_Ag: 25, FVII_C: <1
Unknown
-
-
-
-
Pavithra Rallapalli
00096062
0000074338
severe
-
-
FVII_Ag: -, FVII_C: 1
Unknown
-
-
-
-
Pavithra Rallapalli
00096063
0000074339
severe
-
-
FVII_Ag: -, FVII_C: <1
Unknown
-
-
-
-
Pavithra Rallapalli
00096064
0000074340
unknown
-
-
FVII_Ag: 51, FVII_C: 32
Unknown
-
-
-
-
Pavithra Rallapalli
00096065
0000074341
unknown
-
-
FVII_Ag: 102, FVII_C: 67
Unknown
-
-
-
-
Pavithra Rallapalli
00096066
0000074342
unknown
-
-
FVII_Ag: 96, FVII_C: 75
Unknown
-
-
-
-
Pavithra Rallapalli
00096067
0000074343
unknown
-
-
FVII_Ag: 86, FVII_C: 57
Unknown
-
-
-
-
Pavithra Rallapalli
00096068
0000074344
severe
-
-
FVII_Ag: 2, FVII_C: <1
Unknown
-
-
-
-
Pavithra Rallapalli
00096069
0000074345
mild
-
-
FVII_Ag: -, FVII_C: 2-9
Unknown
-
-
-
-
Pavithra Rallapalli
00096070
0000074346
severe
-
-
FVII_Ag: 7, FVII_C: 1
Unknown
-
-
-
-
Pavithra Rallapalli
00096071
0000074347
mild
-
-
FVII_Ag: 44, FVII_C: 41
Unknown
-
-
-
-
Pavithra Rallapalli
00096072
0000074348
mild
-
-
FVII_Ag: -, FVII_C: 28
Unknown
-
-
-
-
Pavithra Rallapalli
00096073
0000074349
unknown
-
-
FVII_Ag: 115, FVII_C:
Unknown
-
-
-
-
Pavithra Rallapalli
00096074
0000074350
asymptomatic
-
-
FVII_Ag: 76, FVII_C: 20
Unknown
-
-
-
-
Pavithra Rallapalli
00096075
0000074351
severe
-
-
FVII_Ag: 100, FVII_C: <1
Unknown
-
-
-
-
Pavithra Rallapalli
00096076
0000074352
asymptomatic
-
-
FVII_Ag: 100, FVII_C: 66
Unknown
-
-
-
-
Pavithra Rallapalli
00096077
0000074353
severe
-
-
FVII_Ag: -, FVII_C: <1
Unknown
-
-
-
-
Pavithra Rallapalli
00096078
0000074354
severe
-
-
FVII_Ag: <1, FVII_C: <1
Unknown
-
-
-
-
Pavithra Rallapalli
00096079
0000074355
unknown
-
-
FVII_Ag: -, FVII_C: 5-7
Unknown
-
-
-
-
Pavithra Rallapalli
00096080
0000074356
asymptomatic
-
-
FVII_Ag: -, FVII_C: 3
Unknown
-
-
-
-
Pavithra Rallapalli
00096081
0000074357
mild
-
-
FVII_Ag: 6, FVII_C: <1
Unknown
-
-
-
-
Pavithra Rallapalli
00096082
0000074358
unknown
-
-
FVII_Ag: 4, FVII_C: 1
Unknown
-
-
-
-
Pavithra Rallapalli
00096083
0000074359
unknown
-
-
FVII_Ag: -, FVII_C: 13
Unknown
-
-
-
-
Pavithra Rallapalli
00096084
0000074360
mild
-
-
FVII_Ag: 15, FVII_C: 2
Unknown
-
-
-
-
Pavithra Rallapalli
00096085
0000074361
asymptomatic
-
-
FVII_Ag: 35, FVII_C: 27
Unknown
-
-
-
-
Pavithra Rallapalli
00096086
0000074362
asymptomatic
-
-
FVII_Ag: -, FVII_C: 14-40
Unknown
-
-
-
-
Pavithra Rallapalli
00096087
0000074363
unknown
-
-
FVII_Ag: 56, FVII_C: 52
Unknown
-
-
-
-
Pavithra Rallapalli
00096088
0000074364
mild
-
-
FVII_Ag: 2, FVII_C: <1
Unknown
-
-
-
-
Pavithra Rallapalli
00096089
0000074365
asymptomatic
-
-
FVII_Ag: 52, FVII_C: 10
Unknown
-
-
-
-
Pavithra Rallapalli
00096090
0000074366
severe
-
-
-
Unknown
-
-
-
-
Pavithra Rallapalli
00096091
0000074367
asymptomatic
-
-
FVII_Ag: 47, FVII_C: 7
Unknown
-
-
-
-
Pavithra Rallapalli
00096092
0000074368
unknown
-
-
-
Unknown
-
-
-
-
Pavithra Rallapalli
00096093
0000074369
unknown
-
-
-
Unknown
-
-
-
-
Pavithra Rallapalli
00096094
0000074370
severe
-
-
FVII_Ag: 26, FVII_C: 6.4
Unknown
-
-
-
-
Pavithra Rallapalli
00096095
0000074371
severe
-
-
FVII_Ag: 18, FVII_C: 1.9
Unknown
-
-
-
-
Pavithra Rallapalli
00096096
0000074372
severe
-
-
FVII_Ag: 14, FVII_C: 4.5
Unknown
-
-
-
-
Pavithra Rallapalli
00096097
0000074373
severe
-
-
FVII_Ag: 11.5, FVII_C: 0.6
Unknown
-
-
-
-
Pavithra Rallapalli
00096098
0000074374
severe
-
-
FVII_Ag: 28, FVII_C: 2
Unknown
-
-
-
-
Pavithra Rallapalli
00096099
0000074375
severe
-
-
FVII_Ag: 11, FVII_C: 2.1
Unknown
-
-
-
-
Pavithra Rallapalli
00096100
0000074376
severe
-
-
FVII_Ag: 23.5, FVII_C: 2.2
Unknown
-
-
-
-
Pavithra Rallapalli
00096101
0000074377
severe
-
-
FVII_Ag: 14, FVII_C: 2.2
Unknown
-
-
-
-
Pavithra Rallapalli
00096102
0000074378
severe
-
-
FVII_Ag: 17, FVII_C: 2.3
Unknown
-
-
-
-
Pavithra Rallapalli
00096103
0000074379
severe
-
-
FVII_Ag: 20, FVII_C: 1.6
Unknown
-
-
-
-
Pavithra Rallapalli
00096104
0000074380
severe
-
-
FVII_Ag: 17.5, FVII_C: 2.4
Unknown
-
-
-
-
Pavithra Rallapalli
00096105
0000074381
severe
-
-
FVII_Ag: 20, FVII_C: 2.3
Unknown
-
-
-
-
Pavithra Rallapalli
00096106
0000074382
severe
-
-
FVII_Ag: 17, FVII_C: 6.5
Unknown
-
-
-
-
Pavithra Rallapalli
00096107
0000074383
severe
-
-
FVII_Ag: 13.5, FVII_C: 2.9
Unknown
-
-
-
-
Pavithra Rallapalli
00096108
0000074384
severe
-
-
FVII_Ag: 13, FVII_C: 1.4
Unknown
-
-
-
-
Pavithra Rallapalli
00096109
0000074385
severe
-
-
FVII_Ag: 10, FVII_C: 1.3
Unknown
-
-
-
-
Pavithra Rallapalli
00096110
0000074386
severe
-
-
FVII_Ag: 10, FVII_C: 1.8
Unknown
-
-
-
-
Pavithra Rallapalli
00096111
0000074387
unknown
-
-
FVII_Ag: -, FVII_C: 35
Unknown
-
-
-
-
Pavithra Rallapalli
00096112
0000074388
severe
-
-
FVII_Ag: 10, FVII_C: <1
Unknown
-
-
-
-
Pavithra Rallapalli
00096113
0000074389
severe
-
-
FVII_Ag: 12, FVII_C: <1
Unknown
-
-
-
-
Pavithra Rallapalli
00096114
0000074390
moderate
-
-
FVII_Ag: 21, FVII_C: 15
Unknown
-
-
-
-
Pavithra Rallapalli
00096115
0000074391
mild
-
-
FVII_Ag: -, FVII_C: 15
Unknown
-
-
-
-
Pavithra Rallapalli
00096116
0000074392
unknown
-
-
FVII_Ag: 43, FVII_C: 7
Unknown
-
-
-
-
Pavithra Rallapalli
00096117
0000074393
severe
-
-
FVII_Ag: 6, FVII_C: 2
Unknown
-
-
-
-
Pavithra Rallapalli
00096118
0000074394
mild
-
-
FVII_Ag: 8, FVII_C: <1
Unknown
-
-
-
-
Pavithra Rallapalli
00096119
0000074395
asymptomatic
-
-
FVII_Ag: 19, FVII_C: 2
Unknown
-
-
-
-
Pavithra Rallapalli
00096120
0000074396
asymptomatic
-
-
FVII_Ag: 28, FVII_C: 25
Unknown
-
-
-
-
Pavithra Rallapalli
00096121
0000074397
asymptomatic
-
-
FVII_Ag: 58, FVII_C: 62
Unknown
-
-
-
-
Pavithra Rallapalli
00096122
0000074398
asymptomatic
-
-
FVII_Ag: 79, FVII_C: 73
Unknown
-
-
-
-
Pavithra Rallapalli
00096123
0000074399
severe
-
-
-
Unknown
-
-
-
-
Pavithra Rallapalli
00096124
0000074400
asymptomatic
-
-
FVII_Ag: -, FVII_C: 72
Unknown
-
-
-
-
Pavithra Rallapalli
00096125
0000074401
unknown
-
-
FVII_Ag: 41, FVII_C: 27
Unknown
-
-
-
-
Pavithra Rallapalli
00096126
0000074402
asymptomatic
-
-
FVII_Ag: 14, FVII_C: 12
Unknown
-
-
-
-
Pavithra Rallapalli
00096127
0000074403
unknown
-
-
FVII_Ag: 73, FVII_C: 46
Unknown
-
-
-
-
Pavithra Rallapalli
00096128
0000074404
unknown
-
-
FVII_Ag: 2, FVII_C: 1-4
Unknown
-
-
-
-
Pavithra Rallapalli
00096129
0000074405
severe
-
-
FVII_Ag: <1, FVII_C: <1
Unknown
-
-
-
-
Pavithra Rallapalli
00096130
10 per page
25 per page
50 per page
100 per page
Legend
How to query
« First
Prev
1
2
3
4
Next
Last »
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our
APIs
to retrieve data.
Powered by
LOVD v.3.0
Build 30b
LOVD software ©2004-2024
Leiden University Medical Center
Database contents © by their respective submitters and curators