Global Variome shared LOVD
TMEM171 (transmembrane protein 171)
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Global Variome, with Curator vacancy
View all genes
View TMEM171 gene homepage
View graphs about the TMEM171 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene TMEM171
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene TMEM171
View all variants in gene TMEM171
Full data view for gene TMEM171
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 TMEM171
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene TMEM171
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene TMEM171
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Phenotypes for disease #02237 (HEMB (hemophilia B (HEMB)), OMIM:306900)
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.
Diagnosis/Initial
: initial diagnosis, before molecular testing
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
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Protein
: FIX protein data, format FIX_C:# (FIX_C: <1 = <1%)
BleedingScore
: bleeding score
BleedingScore/Tool
: bleeding score tool
Auto-antibodies
: Auto-antibodies
Disease/Sub-type
: phenotype disease sub-type
All options:
type I
type II
type 2
type 2A
type 2B
type 2M
type 2N
type 3
? = not specified
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.
3526 entries on 36 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
5
6
7
8
9
10
11
...
Next
Last »
Phenotype ID
Diagnosis/Initial
Inheritance
Diagnosis/Definite
Phenotype details
Protein
BleedingScore
BleedingScore/Tool
Auto-antibodies
Disease/Sub-type
Owner
Individual ID
0000076007
-
Unknown
-
severe
FIX:C <1
-
-
-
-
Geoffrey Kemball-Cook
00097732
0000076151
-
Unknown
-
severe
FIX:C <1
-
-
-
-
Geoffrey Kemball-Cook
00097876
0000077594
-
Unknown
-
-
-
-
-
-
-
Geoffrey Kemball-Cook
00099319
0000078307
-
Unknown
-
-
-
-
-
-
-
Geoffrey Kemball-Cook
00100032
0000078308
-
Familial, X-linked recessive
-
-
-
-
-
-
-
Johan den Dunnen
00100033
0000175710
-
Unknown
-
disease severity moderate
FIX:C 3
-
-
-
-
Geoffrey Kemball-Cook
00235450
0000175711
-
Unknown
-
severe
FIX:C <1
-
-
-
-
Geoffrey Kemball-Cook
00235451
0000175712
-
Unknown
-
severe
FIX:C <1
-
-
-
-
Geoffrey Kemball-Cook
00235452
0000175713
-
Unknown
-
severe
FIX:C <1; FIX:Ag <1
-
-
-
-
Geoffrey Kemball-Cook
00235453
0000175714
-
Unknown
-
severe
FIX:C <1
-
-
-
-
Geoffrey Kemball-Cook
00235454
0000175715
-
Unknown
-
severe
FIX:C 0.9
-
-
-
-
Geoffrey Kemball-Cook
00235455
0000175716
-
Unknown
-
-
-
-
-
-
-
Geoffrey Kemball-Cook
00235456
0000175717
-
Unknown
-
-
-
-
-
-
-
Geoffrey Kemball-Cook
00235457
0000175718
-
Unknown
-
disease severity moderate
FIX:C 2
-
-
-
-
Geoffrey Kemball-Cook
00235458
0000175719
-
Unknown
-
-
-
-
-
-
-
Geoffrey Kemball-Cook
00235459
0000175720
-
Unknown
-
disease severity mild
FIX:C 0-10; FIX:Ag 0-10
-
-
-
-
Geoffrey Kemball-Cook
00235460
0000175721
-
Unknown
-
disease severity mild
FIX:C 0-36; FIX:Ag 0-36
-
-
-
-
Geoffrey Kemball-Cook
00235461
0000175722
-
Unknown
-
disease severity moderate
FIX:C 3.5
-
-
-
-
Geoffrey Kemball-Cook
00235462
0000175723
-
Unknown
-
disease severity mild
FIX:C 0-60; FIX:Ag 0-60
-
-
-
-
Geoffrey Kemball-Cook
00235463
0000175724
-
Unknown
-
disease severity mild
FIX:C 7-20
-
-
-
-
Geoffrey Kemball-Cook
00235464
0000175725
-
Unknown
-
disease severity mild
FIX:C 26
-
-
-
-
Geoffrey Kemball-Cook
00235465
0000175726
-
Unknown
-
disease severity mild
FIX:C 18-50
-
-
-
-
Geoffrey Kemball-Cook
00235466
0000175727
-
Unknown
-
disease severity moderate
FIX:C 3
-
-
-
-
Geoffrey Kemball-Cook
00235467
0000175728
-
Unknown
-
-
FIX:Ag <25
-
-
-
-
Geoffrey Kemball-Cook
00235468
0000175729
-
Unknown
-
disease severity mild
FIX:C 13-70
-
-
-
-
Geoffrey Kemball-Cook
00235469
0000175730
-
Unknown
-
disease severity mild
FIX:C 10; FIX:Ag 13
-
-
-
type I
Geoffrey Kemball-Cook
00235470
0000175731
-
Unknown
-
-
-
-
-
-
-
Geoffrey Kemball-Cook
00235471
0000175732
-
Unknown
-
disease severity mild
FIX:C 1-normal
-
-
-
-
Geoffrey Kemball-Cook
00235472
0000175733
-
Unknown
-
disease severity mild
FIX:C 7; FIX:Ag 4
-
-
-
type I
Geoffrey Kemball-Cook
00235473
0000175734
-
Unknown
-
disease severity mild
FIX:C 30
-
-
-
-
Geoffrey Kemball-Cook
00235474
0000175735
-
Unknown
-
disease severity mild
FIX:C 10-64
-
-
-
-
Geoffrey Kemball-Cook
00235475
0000175736
-
Unknown
-
disease severity mild
FIX:C 9; FIX:Ag 8
-
-
-
type I
Geoffrey Kemball-Cook
00235476
0000175737
-
Unknown
-
disease severity mild
FIX:C 30
-
-
-
-
Geoffrey Kemball-Cook
00235477
0000175738
-
Unknown
-
-
-
-
-
-
-
Geoffrey Kemball-Cook
00235478
0000175739
-
Unknown
-
disease severity mild
FIX:C 18-60
-
-
-
-
Geoffrey Kemball-Cook
00235479
0000175740
-
Unknown
-
disease severity moderate
FIX:C 2.5
-
-
-
-
Geoffrey Kemball-Cook
00235480
0000175741
-
Unknown
-
disease severity mild
FIX:C 10-65
-
-
-
-
Geoffrey Kemball-Cook
00235481
0000175742
-
Unknown
-
disease severity mild
FIX:C 0-25
-
-
-
-
Geoffrey Kemball-Cook
00235482
0000175743
-
Unknown
-
disease severity mild
FIX:C 28
-
-
-
-
Geoffrey Kemball-Cook
00235483
0000175744
-
Unknown
-
disease severity mild
FIX:C 15
-
-
-
-
Geoffrey Kemball-Cook
00235484
0000175745
-
Unknown
-
disease severity mild
FIX:C 3-26
-
-
-
-
Geoffrey Kemball-Cook
00235485
0000175746
-
Unknown
-
disease severity moderate
FIX:C 1
-
-
-
-
Geoffrey Kemball-Cook
00235486
0000175747
-
Unknown
-
disease severity mild
FIX:C 35; FIX:Ag 35
-
-
-
type I
Geoffrey Kemball-Cook
00235487
0000175748
-
Unknown
-
disease severity mild
FIX:C 20; FIX:Ag 25
-
-
-
type I
Geoffrey Kemball-Cook
00235488
0000175749
-
Unknown
-
disease severity moderate
FIX:C 2
-
-
-
-
Geoffrey Kemball-Cook
00235489
0000175750
-
Unknown
-
disease severity moderate
FIX:C 1
-
-
-
-
Geoffrey Kemball-Cook
00235490
0000175751
-
Unknown
-
-
-
-
-
-
-
Geoffrey Kemball-Cook
00235491
0000175752
-
Unknown
-
-
-
-
-
-
-
Geoffrey Kemball-Cook
00235492
0000175753
-
Unknown
-
disease severity mild
FIX:C 7
-
-
-
-
Geoffrey Kemball-Cook
00235493
0000175754
-
Unknown
-
-
-
-
-
-
-
Geoffrey Kemball-Cook
00235494
0000175755
-
Unknown
-
-
-
-
-
-
-
Geoffrey Kemball-Cook
00235495
0000175756
-
Unknown
-
disease severity mild
FIX:C 52; FIX:Ag 50
-
-
-
type I
Geoffrey Kemball-Cook
00235496
0000175757
-
Unknown
-
disease severity mild
FIX:C 1-30; FIX:Ag 1-30
-
-
-
-
Geoffrey Kemball-Cook
00235497
0000175758
-
Unknown
-
disease severity mild
FIX:C 16
-
-
-
-
Geoffrey Kemball-Cook
00235498
0000175759
-
Unknown
-
disease severity mild
FIX:C 6
-
-
-
-
Geoffrey Kemball-Cook
00235499
0000175760
-
Unknown
-
severe
FIX:C <1; FIX:Ag <1
-
-
-
-
Geoffrey Kemball-Cook
00235500
0000175761
-
Unknown
-
disease severity moderate
FIX:C 1
-
-
-
-
Geoffrey Kemball-Cook
00235501
0000175762
-
Unknown
-
disease severity mild
FIX:C 15
-
-
-
-
Geoffrey Kemball-Cook
00235502
0000175763
-
Unknown
-
disease severity mild
FIX:C 7
-
-
-
-
Geoffrey Kemball-Cook
00235503
0000175764
-
Unknown
-
disease severity moderate
FIX:C 3
-
-
-
-
Geoffrey Kemball-Cook
00235504
0000175765
-
Unknown
-
disease severity moderate
FIX:C 4.5
-
-
-
-
Geoffrey Kemball-Cook
00235505
0000175766
-
Unknown
-
disease severity mild
FIX:C 0-37
-
-
-
-
Geoffrey Kemball-Cook
00235506
0000175767
-
Unknown
-
disease severity mild
FIX:C 0-8
-
-
-
-
Geoffrey Kemball-Cook
00235507
0000175768
-
Unknown
-
-
-
-
-
-
-
Geoffrey Kemball-Cook
00235508
0000175769
-
Unknown
-
disease severity moderate
FIX:C 5
-
-
-
-
Geoffrey Kemball-Cook
00235509
0000175770
-
Unknown
-
disease severity mild
FIX:C 0-60; FIX:Ag 0-60
-
-
-
-
Geoffrey Kemball-Cook
00235510
0000175771
-
Unknown
-
disease severity moderate
FIX:C 2
-
-
-
-
Geoffrey Kemball-Cook
00235511
0000175772
-
Unknown
-
-
-
-
-
-
-
Geoffrey Kemball-Cook
00235512
0000175773
-
Unknown
-
-
-
-
-
-
-
Geoffrey Kemball-Cook
00235513
0000175774
-
Unknown
-
-
-
-
-
-
-
Geoffrey Kemball-Cook
00235514
0000175775
-
Unknown
-
disease severity moderate
FIX:C 1
-
-
-
-
Geoffrey Kemball-Cook
00235515
0000175776
-
Unknown
-
disease severity mild
FIX:C 0-60; FIX:Ag 0-60
-
-
-
-
Geoffrey Kemball-Cook
00235516
0000175777
-
Unknown
-
severe
FIX:C <1
-
-
-
-
Geoffrey Kemball-Cook
00235517
0000175778
-
Unknown
-
disease severity mild
FIX:C 0-60; FIX:Ag 0-60
-
-
-
-
Geoffrey Kemball-Cook
00235518
0000175779
-
Unknown
-
disease severity mild
FIX:C 32
-
-
-
-
Geoffrey Kemball-Cook
00235519
0000175780
-
Unknown
-
disease severity mild
FIX:C 3-35
-
-
-
-
Geoffrey Kemball-Cook
00235520
0000175781
-
Unknown
-
disease severity mild
FIX:C 12-normal
-
-
-
-
Geoffrey Kemball-Cook
00235521
0000175782
-
Unknown
-
disease severity moderate
FIX:C 1.5-2
-
-
-
-
Geoffrey Kemball-Cook
00235522
0000175783
-
Unknown
-
disease severity mild
FIX:C 3-51
-
-
-
-
Geoffrey Kemball-Cook
00235523
0000175784
-
Unknown
-
-
-
-
-
-
-
Geoffrey Kemball-Cook
00235524
0000175785
-
Unknown
-
severe
FIX:C <1; FIX:Ag <1
-
-
-
-
Geoffrey Kemball-Cook
00235525
0000175786
-
Unknown
-
disease severity mild
FIX:C 6-35
-
-
-
-
Geoffrey Kemball-Cook
00235526
0000175787
-
Unknown
-
-
-
-
-
-
-
Geoffrey Kemball-Cook
00235527
0000175788
-
Unknown
-
disease severity mild
FIX:Ag 105
-
-
-
-
Geoffrey Kemball-Cook
00235528
0000175789
-
Unknown
-
severe
FIX:C <1; FIX:Ag <1
-
-
-
-
Geoffrey Kemball-Cook
00235529
0000175790
-
Unknown
-
severe
FIX:C <1; FIX:Ag <1
-
-
-
-
Geoffrey Kemball-Cook
00235530
0000175791
-
Unknown
-
disease severity mild
FIX:C 30
-
-
-
-
Geoffrey Kemball-Cook
00235531
0000175792
-
Unknown
-
-
-
-
-
-
-
Geoffrey Kemball-Cook
00235532
0000175793
-
Unknown
-
severe
FIX:C <1; FIX:Ag <1
-
-
-
-
Geoffrey Kemball-Cook
00235533
0000175794
-
Unknown
-
severe
FIX:C <1; FIX:Ag <1
-
-
-
-
Geoffrey Kemball-Cook
00235534
0000175795
-
Unknown
-
disease severity moderate
FIX:C 1
-
-
-
-
Geoffrey Kemball-Cook
00235535
0000175796
-
Unknown
-
disease severity moderate
FIX:C 2; FIX:Ag <1
-
-
-
type I
Geoffrey Kemball-Cook
00235536
0000175797
-
Unknown
-
disease severity moderate
FIX:C 2
-
-
-
-
Geoffrey Kemball-Cook
00235537
0000175798
-
Unknown
-
-
-
-
-
-
-
Geoffrey Kemball-Cook
00235538
0000175799
-
Unknown
-
severe
FIX:C <1; FIX:Ag 1
-
-
-
-
Geoffrey Kemball-Cook
00235539
0000175800
-
Unknown
-
severe
FIX:C 0
-
-
-
-
Geoffrey Kemball-Cook
00235540
0000175801
-
Unknown
-
severe
FIX:C <1
-
-
-
-
Geoffrey Kemball-Cook
00235541
0000175802
-
Unknown
-
severe
-
-
-
-
-
Geoffrey Kemball-Cook
00235542
0000175803
-
Unknown
-
-
-
-
-
-
-
Geoffrey Kemball-Cook
00235543
0000175804
-
Unknown
-
severe
FIX:C <1
-
-
-
-
Geoffrey Kemball-Cook
00235544
10 per page
25 per page
50 per page
100 per page
Legend
How to query
« First
Prev
1
2
3
4
5
6
7
8
9
10
11
...
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