Global Variome shared LOVD
HNF1A (HNF1 homeobox A)
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Curators:
Monique Losekoot
and
Kevin Colclough
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View all diseases associated with gene HNF1A
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All screenings for gene HNF1A
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 (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
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)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = singele molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
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.
2040 entries on 21 pages. Showing entries 1 - 100.
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Legend
How to query
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000214116
00213041
DNA
PCR
blood
-
1
Jilani Jawaid
0000219444
00218375
DNA
SEQ-NG
-
-
1
Gemeinschaftspraxis für Humangenetik Dresden
0000242376
00241265
DNA
SEQ
-
-
1
Monique Losekoot
0000242377
00241266
DNA
SEQ
-
-
1
Monique Losekoot
0000242378
00241267
DNA
SEQ
-
-
1
Monique Losekoot
0000242379
00241268
DNA
SEQ
-
-
1
Monique Losekoot
0000242380
00241269
DNA
SEQ
-
-
1
Monique Losekoot
0000242381
00241270
DNA
SEQ
-
-
1
Monique Losekoot
0000242382
00241271
DNA
SEQ
-
-
1
Monique Losekoot
0000242383
00241272
DNA
SEQ
-
-
1
Monique Losekoot
0000242384
00241273
DNA
SEQ
-
-
1
Monique Losekoot
0000242385
00241274
DNA
SEQ
-
-
1
Monique Losekoot
0000242386
00241275
DNA
SEQ
-
-
1
Monique Losekoot
0000242387
00241276
DNA
SEQ
-
-
1
Monique Losekoot
0000242388
00241277
DNA
SEQ
-
-
1
Monique Losekoot
0000242389
00241278
DNA
SEQ
-
-
1
Monique Losekoot
0000242390
00241279
DNA
SEQ
-
-
1
Monique Losekoot
0000242391
00241280
DNA
SEQ
-
-
1
Monique Losekoot
0000242392
00241281
DNA
SEQ
-
-
1
Monique Losekoot
0000242393
00241282
DNA
SEQ
-
-
1
Monique Losekoot
0000242394
00241283
DNA
SEQ
-
-
1
Monique Losekoot
0000242395
00241284
DNA
SEQ
-
-
1
Monique Losekoot
0000242396
00241285
DNA
SEQ
-
-
1
Monique Losekoot
0000242397
00241286
DNA
SEQ
-
-
1
Monique Losekoot
0000242398
00241287
DNA
SEQ
-
-
1
Monique Losekoot
0000242399
00241288
DNA
SEQ
-
-
1
Monique Losekoot
0000242400
00241289
DNA
SEQ
-
-
1
Monique Losekoot
0000242401
00241290
DNA
SEQ
-
-
1
Monique Losekoot
0000242402
00241291
DNA
SEQ
-
-
1
Monique Losekoot
0000242403
00241292
DNA
SEQ
-
-
1
Monique Losekoot
0000242404
00241293
DNA
SEQ
-
-
1
Monique Losekoot
0000242405
00241294
DNA
SEQ
-
-
1
Monique Losekoot
0000242406
00241295
DNA
SEQ
-
-
1
Monique Losekoot
0000242407
00241296
DNA
SEQ
-
-
1
Monique Losekoot
0000242408
00241297
DNA
SEQ
-
-
1
Monique Losekoot
0000242409
00241298
DNA
SEQ
-
-
1
Monique Losekoot
0000242410
00241299
DNA
SEQ
-
-
1
Monique Losekoot
0000242411
00241300
DNA
SEQ
-
-
1
Monique Losekoot
0000242412
00241301
DNA
SEQ
-
-
1
Monique Losekoot
0000242413
00241302
DNA
SEQ
-
-
1
Monique Losekoot
0000242414
00241303
DNA
SEQ
-
-
1
Monique Losekoot
0000242415
00241304
DNA
SEQ
-
-
1
Monique Losekoot
0000242416
00241305
DNA
SEQ
-
-
1
Monique Losekoot
0000242417
00241306
DNA
SEQ
-
-
1
Monique Losekoot
0000242418
00241307
DNA
SEQ
-
-
1
Monique Losekoot
0000242419
00241308
DNA
SEQ
-
-
1
Monique Losekoot
0000242420
00241309
DNA
SEQ
-
-
1
Monique Losekoot
0000242421
00241310
DNA
SEQ
-
-
1
Monique Losekoot
0000242422
00241311
DNA
SEQ
-
-
1
Monique Losekoot
0000242423
00241312
DNA
SEQ
-
-
1
Monique Losekoot
0000242424
00241313
DNA
SEQ
-
-
1
Monique Losekoot
0000242425
00241314
DNA
SEQ
-
-
1
Monique Losekoot
0000242426
00241315
DNA
SEQ
-
-
1
Monique Losekoot
0000242427
00241316
DNA
SEQ
-
-
1
Monique Losekoot
0000242428
00241317
DNA
SEQ
-
-
1
Monique Losekoot
0000242429
00241318
DNA
SEQ
-
-
1
Monique Losekoot
0000242430
00241319
DNA
SEQ
-
-
1
Monique Losekoot
0000242431
00241320
DNA
SEQ
-
-
1
Monique Losekoot
0000242432
00241321
DNA
SEQ
-
-
1
Monique Losekoot
0000242433
00241322
DNA
SEQ
-
-
1
Monique Losekoot
0000242434
00241323
DNA
SEQ
-
-
1
Monique Losekoot
0000242435
00241324
DNA
SEQ
-
-
1
Monique Losekoot
0000242436
00241325
DNA
SEQ
-
-
1
Monique Losekoot
0000242437
00241326
DNA
SEQ
-
-
1
Monique Losekoot
0000242438
00241327
DNA
SEQ
-
-
1
Monique Losekoot
0000242439
00241328
DNA
SEQ
-
-
1
Monique Losekoot
0000242440
00241329
DNA
SEQ
-
-
1
Monique Losekoot
0000242441
00241330
DNA
SEQ
-
-
1
Monique Losekoot
0000242442
00241331
DNA
SEQ
-
-
1
Monique Losekoot
0000242443
00241332
DNA
SEQ
-
-
1
Monique Losekoot
0000242444
00241333
DNA
SEQ
-
-
1
Monique Losekoot
0000242445
00241334
DNA
SEQ
-
-
1
Monique Losekoot
0000242446
00241335
DNA
SEQ
-
-
1
Monique Losekoot
0000242447
00241336
DNA
SEQ
-
-
1
Monique Losekoot
0000242448
00241337
DNA
SEQ
-
-
1
Monique Losekoot
0000242449
00241338
DNA
SEQ
-
-
1
Monique Losekoot
0000242450
00241339
DNA
SEQ
-
-
1
Monique Losekoot
0000242451
00241340
DNA
SEQ
-
-
1
Monique Losekoot
0000242452
00241341
DNA
SEQ
-
-
1
Monique Losekoot
0000242453
00241342
DNA
SEQ
-
-
1
Monique Losekoot
0000242454
00241343
DNA
SEQ
-
-
1
Monique Losekoot
0000242455
00241344
DNA
SEQ
-
-
1
Monique Losekoot
0000242456
00241345
DNA
SEQ
-
-
1
Monique Losekoot
0000242457
00241346
DNA
SEQ
-
-
1
Monique Losekoot
0000242458
00241347
DNA
SEQ
-
-
1
Monique Losekoot
0000242459
00241348
DNA
SEQ
-
-
1
Monique Losekoot
0000242460
00241349
DNA
SEQ
-
-
1
Monique Losekoot
0000242461
00241350
DNA
SEQ
-
-
1
Monique Losekoot
0000242462
00241351
DNA
SEQ
-
-
1
Monique Losekoot
0000242463
00241352
DNA
SEQ
-
-
1
Monique Losekoot
0000242464
00241353
DNA
SEQ
-
-
1
Monique Losekoot
0000242465
00241354
DNA
SEQ
-
-
1
Monique Losekoot
0000242466
00241355
DNA
SEQ
-
-
1
Monique Losekoot
0000242467
00241356
DNA
SEQ
-
-
1
Monique Losekoot
0000242468
00241357
DNA
SEQ
-
-
1
Monique Losekoot
0000242469
00241358
DNA
SEQ
-
-
1
Monique Losekoot
0000242470
00241359
DNA
SEQ
-
-
1
Monique Losekoot
0000242471
00241360
DNA
SEQ
-
-
1
Monique Losekoot
0000242472
00241361
DNA
SEQ
-
-
1
Monique Losekoot
0000242473
00241362
DNA
SEQ
-
-
1
Monique Losekoot
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