Global Variome shared LOVD
DMD (dystrophin)
LOVD v.3.0 Build 29 [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Johan den Dunnen
View all genes
View DMD gene homepage
View graphs about the DMD gene database
Create a new gene entry
View all transcripts
View all transcripts of gene DMD
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene DMD
View all variants in gene DMD
Full data view for gene DMD
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 DMD
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene DMD
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene DMD
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
All screenings for gene DMD
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-RNA = next-generation sequencing RNA
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
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.
33612 entries on 337 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
« First
Prev
1
2
3
4
5
6
7
8
9
10
11
...
Next
Last »
Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000000011
00000011
DNA
SEQ-NG
-
-
11
Global Variome, with Curator vacancy
0000000053
00000053
DNA
SEQ-NG
-
-
11
Global Variome, with Curator vacancy
0000016262
00016140
DNA
SEQ;SEQ-NG
leukocyte
-
6
Terry Vrijenhoek
0000034466
00034399
DNA
Southern;PCR
-
-
1
Johan den Dunnen
0000034467
00034400
DNA
PCR
-
-
1
Johan den Dunnen
0000034468
00034401
DNA
PCR
-
-
1
Johan den Dunnen
0000034469
00034402
DNA
Southern
-
-
1
Johan den Dunnen
0000034471
00034404
DNA
PCR
-
-
1
Johan den Dunnen
0000034472
00034405
DNA
PCR
-
-
1
Johan den Dunnen
0000034473
00034406
DNA
PCR
-
-
1
Johan den Dunnen
0000034474
00034407
DNA
PCR
-
-
1
Johan den Dunnen
0000034475
00034408
DNA
PCR
-
-
1
Johan den Dunnen
0000034476
00034409
DNA
PCR
-
-
1
Johan den Dunnen
0000034477
00034410
DNA
PCR
-
-
1
Johan den Dunnen
0000034478
00034411
DNA
PCR
-
-
1
Johan den Dunnen
0000034479
00034412
DNA
PCR
-
-
1
Johan den Dunnen
0000034480
00034413
DNA
PCR
-
-
1
Johan den Dunnen
0000034481
00034414
DNA
PCR
-
-
1
Johan den Dunnen
0000034482
00034415
DNA
PCR
-
-
1
Johan den Dunnen
0000034483
00034416
DNA
arrayCGH
-
-
2
Alessandra Ferlini
0000034484
00034417
DNA
MLPA
-
-
1
Johan den Dunnen
0000034485
00034418
DNA
MLPA
-
-
1
Johan den Dunnen
0000034486
00034419
DNA
PCRm
-
-
1
Johan den Dunnen
0000034487
00034420
DNA
PCRm
-
-
1
Johan den Dunnen
0000034488
00034421
DNA
PCRm;Southern
-
-
1
Johan den Dunnen
0000034489
00034422
DNA
PCRm;Southern;PFGE
-
-
1
Johan den Dunnen
0000034490
00034423
DNA
arrayCGH;arraySNP
-
-
1
Johan den Dunnen
0000035658
00035588
DNA
SEQ
-
-
1
Andreas Laner
0000035659
00035589
DNA
SEQ
-
-
1
Andreas Laner
0000035660
00035590
DNA
SEQ
-
-
1
Andreas Laner
0000035661
00035591
DNA
SEQ
-
-
1
Andreas Laner
0000035662
00035592
DNA
SEQ
-
-
1
Andreas Laner
0000035663
00035593
DNA
SEQ
-
-
1
Andreas Laner
0000035664
00035594
DNA
SEQ
-
-
1
Andreas Laner
0000035665
00035595
DNA
SEQ
-
-
1
Andreas Laner
0000035666
00035596
DNA
SEQ
-
-
1
Andreas Laner
0000035667
00035597
DNA
SEQ
-
-
1
Andreas Laner
0000035668
00035598
DNA
SEQ
-
-
1
Andreas Laner
0000035669
00035599
DNA
SEQ
-
-
1
Andreas Laner
0000035670
00035600
DNA
SEQ
-
-
1
Andreas Laner
0000035671
00035601
DNA
SEQ
-
-
1
Andreas Laner
0000035672
00035602
DNA
SEQ
-
-
1
Andreas Laner
0000035673
00035603
DNA
SEQ
-
-
1
Andreas Laner
0000035674
00035604
DNA
SEQ
-
-
1
Andreas Laner
0000035675
00035605
DNA
SEQ
-
-
1
Andreas Laner
0000035676
00035606
DNA
SEQ
-
-
1
Andreas Laner
0000035677
00035607
DNA
SEQ
-
-
1
Andreas Laner
0000035678
00035608
DNA
SEQ
-
-
1
Andreas Laner
0000035679
00035609
DNA
SEQ
-
-
1
Andreas Laner
0000035680
00035610
DNA
SEQ
-
-
1
Andreas Laner
0000035681
00035611
DNA
SEQ
-
-
1
Andreas Laner
0000035682
00035612
DNA
SEQ
-
-
1
Andreas Laner
0000035683
00035613
DNA
SEQ
-
-
1
Andreas Laner
0000035684
00035614
DNA
SEQ
-
-
1
Andreas Laner
0000035685
00035615
DNA
SEQ
-
-
1
Andreas Laner
0000035686
00035616
DNA
SEQ
-
-
1
Andreas Laner
0000035687
00035617
DNA
SEQ
-
-
1
Andreas Laner
0000035688
00035618
DNA
SEQ
-
-
1
Andreas Laner
0000035689
00035619
DNA
SEQ
-
-
1
Andreas Laner
0000035690
00035620
DNA
SEQ
-
-
1
Andreas Laner
0000035691
00035621
DNA
SEQ
-
-
1
Andreas Laner
0000035692
00035622
DNA
SEQ
-
-
1
Andreas Laner
0000035693
00035623
DNA
SEQ
-
-
1
Andreas Laner
0000035694
00035624
DNA
SEQ
-
-
1
Andreas Laner
0000048979
00049063
DNA
arrayCGH
-
-
1
Johan den Dunnen
0000048980
00049064
DNA
PCRm;Southern
-
-
1
Johan den Dunnen
0000049807
00049886
DNA
MIC;PFGE;Southern
-
-
4
Johan den Dunnen
0000049808
00049887
DNA
MIC;PFGE;Southern
-
-
4
Johan den Dunnen
0000049809
00049888
DNA
MIC;PFGE;Southern
-
-
4
Johan den Dunnen
0000049810
00049889
DNA
MIC;PFGE;Southern
-
-
4
Johan den Dunnen
0000049811
00049890
DNA
MIC;PFGE;Southern
-
-
4
Johan den Dunnen
0000049812
00049891
DNA
MIC;PFGE;Southern
-
-
4
Johan den Dunnen
0000049813
00049892
DNA
MIC;PFGE;Southern
-
-
4
Johan den Dunnen
0000050080
00050135
DNA
SEQ;SEQ-NG
-
-
1
Johan den Dunnen
0000052307
00052359
DNA
PCR;PCRm
-
-
1
Johan den Dunnen
0000052308
00052360
DNA
PCR;PCRm;MLPA
-
-
1
Johan den Dunnen
0000052309
00052361
DNA
PCR;PCRm;MLPA
-
-
1
Johan den Dunnen
0000052310
00052362
DNA
PCR;PCRm;MLPA
-
-
1
Johan den Dunnen
0000058426
00058463
DNA
SEQ-NG-I
-
-
4
Johan den Dunnen
0000063246
00043843
DNA
?
-
-
1
Manuel F. Mas Rodriguez
0000063247
00043914
DNA
?
-
-
1
Manuel F. Mas Rodriguez
0000063248
00043890
DNA
?
-
-
1
Manuel F. Mas Rodriguez
0000063249
00043889
DNA
?
-
-
1
Manuel F. Mas Rodriguez
0000063250
00043922
DNA
?
-
-
1
Manuel F. Mas Rodriguez
0000063251
00043923
DNA
?
-
-
1
Manuel F. Mas Rodriguez
0000063252
00043885
DNA
?
-
-
1
Manuel F. Mas Rodriguez
0000063253
00043899
DNA
?
-
-
1
Manuel F. Mas Rodriguez
0000063254
00043883
DNA
?
-
-
1
Manuel F. Mas Rodriguez
0000063255
00043854
DNA
?
-
-
1
Manuel F. Mas Rodriguez
0000063256
00043893
DNA
?
-
-
1
Manuel F. Mas Rodriguez
0000063257
00043907
DNA
?
-
-
1
Manuel F. Mas Rodriguez
0000063258
00043908
DNA
?
-
-
1
Manuel F. Mas Rodriguez
0000063259
00043897
DNA
?
-
-
1
Manuel F. Mas Rodriguez
0000063260
00043906
DNA
?
-
-
1
Manuel F. Mas Rodriguez
0000063261
00043921
DNA
?
-
-
1
Manuel F. Mas Rodriguez
0000063262
00043911
DNA
?
-
-
1
Manuel F. Mas Rodriguez
0000063263
00043881
DNA
?
-
-
1
Manuel F. Mas Rodriguez
0000063264
00043856
DNA
?
-
-
1
Manuel F. Mas Rodriguez
0000063265
00043917
DNA
?
-
-
1
Manuel F. Mas Rodriguez
0000063266
00043912
DNA
?
-
-
1
Manuel F. Mas Rodriguez
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
« First
Prev
1
2
3
4
5
6
7
8
9
10
11
...
Next
Last »
Powered by
LOVD v.3.0
Build 29
LOVD software ©2004-2023
Leiden University Medical Center