Iran Variome MPS Database
IDUA (alpha-L-iduronidase)
LOVD v.3.0 Build 27 [
Current LOVD status
]
Log in
Curator:
Variome.ir
View all genes
View IDUA gene homepage
View graphs about the IDUA gene database
View all transcripts
View all transcripts of gene IDUA
View all variants
View all variants affecting transcripts
View unique variants in gene IDUA
View all variants in gene IDUA
Full data view for gene IDUA
View all individuals
View all individuals with variants in gene IDUA
View all diseases
View all diseases associated with gene IDUA
View all screenings
View all screenings for gene IDUA
Submit new data
All screenings for gene IDUA
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 = RNA (cDNA).
All options:
DNA
RNA = RNA (cDNA)
Protein
? = unknown
Technique
: Technique(s) used to identify the sequence variant.
All options:
? = Unknown
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)
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
CSCE = Conformation Sensitive Capillary Electrophoresis
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
ddF = dideoxy Fingerprinting
DSCA = Double-Strand DNA Conformation Analysis
EMC = Enzymatic Mismatch Cleavage
HD = HeteroDuplex analysis
MCA = high-resolution Melting Curve Analysis (hrMCA)
IHC = Immuno-Histo-Chemistry
MAPH = Multiplex Amplifiable Probe Hybridisation
MLPA = Multiplex Ligation-dependent Probe Amplification
SEQ-NG = Next-Generation Sequencing
SEQ-NG-H = Next-Generation Sequencing - Helicos
SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
SEQ-NG-R = Next-Generation Sequencing - Roche/454
SEQ-NG-S = Next-Generation Sequencing - SOLiD
Northern = Northern blotting
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRq = PCR, quantitative
PAGE = Poly-Acrylamide Gel-Electrophoresis
PTT = Protein Truncation Test
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
RT-PCR = Reverse Transcription and PCR
SEQ = SEQuencing
SBE = Single Base Extension
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = SSCA, fluorescent (SSCP)
Southern = Southern blotting
TaqMan = TaqMan assay
Western = Western Blotting
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.
60 entries on 1 page. Showing entries 1 - 60.
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
Screening ID
Individual ID
Template
Technique
Variants found
Owner
0000000002
00000002
DNA
SEQ-NG
1
Variome.ir
0000000020
00000018
DNA
SEQ-NG
1
Variome.ir
0000000028
00000026
DNA
SEQ-NG
1
Variome.ir
0000000033
00000031
DNA
SEQ-NG
1
Variome.ir
0000000036
00000033
DNA
SEQ-NG
1
Variome.ir
0000000039
00000036
DNA
SEQ-NG
1
Variome.ir
0000000045
00000042
DNA
SEQ-NG
1
Variome.ir
0000000046
00000043
DNA
SEQ-NG
1
Variome.ir
0000000048
00000045
DNA
SEQ-NG
1
Variome.ir
0000000051
00000048
DNA
SEQ-NG
1
Variome.ir
0000000054
00000051
DNA
SEQ-NG
1
Variome.ir
0000000062
00000059
DNA
SEQ-NG
1
Variome.ir
0000000063
00000060
DNA
SEQ
1
Variome.ir
0000000066
00000063
DNA
SEQ-NG
1
Variome.ir
0000000068
00000065
DNA
SEQ-NG
2
Variome.ir
0000000071
00000068
DNA
SEQ-NG
1
Variome.ir
0000000089
00000086
DNA
SEQ-NG
1
Variome.ir
0000000090
00000087
DNA
SEQ
1
Variome.ir
0000000092
00000089
DNA
SEQ
2
Variome.ir
0000000099
00000096
DNA
SEQ
1
Variome.ir
0000000104
00000101
DNA
SEQ-NG
1
Variome.ir
0000000107
00000104
DNA
SEQ-NG
2
Variome.ir
0000000110
00000107
DNA
SEQ-NG
1
Variome.ir
0000000114
00000111
DNA
SEQ-NG
1
Variome.ir
0000000118
00000115
DNA
SEQ
1
Variome.ir
0000000119
00000116
DNA
SEQ
1
Variome.ir
0000000123
00000120
DNA
SEQ-NG
1
Variome.ir
0000000130
00000127
DNA
SEQ-NG
1
Variome.ir
0000000131
00000128
DNA
SEQ
1
Variome.ir
0000000138
00000135
DNA
SEQ-NG
1
Variome.ir
0000000140
00000137
DNA
SEQ-NG
1
Variome.ir
0000000150
00000147
DNA
SEQ
1
Variome.ir
0000000155
00000151
DNA
SEQ-NG
2
Variome.ir
0000000159
00000155
DNA
SEQ-NG
1
Variome.ir
0000000160
00000156
DNA
SEQ-NG
1
Variome.ir
0000000167
00000163
DNA
SEQ-NG
1
Variome.ir
0000000172
00000168
DNA
SEQ-NG
1
Variome.ir
0000000173
00000169
DNA
SEQ
1
Variome.ir
0000000174
00000170
DNA
SEQ-NG
1
Variome.ir
0000000175
00000171
DNA
SEQ
1
Variome.ir
0000000179
00000175
DNA
arraySEQ
1
Variome.ir
0000000190
00000186
DNA
SEQ-NG
1
Variome.ir
0000000191
00000187
DNA
SEQ
1
Variome.ir
0000000195
00000191
DNA
SEQ-NG
1
Variome.ir
0000000198
00000194
DNA
SEQ-NG
1
Variome.ir
0000000202
00000198
DNA
SEQ-NG
1
Variome.ir
0000000204
00000200
DNA
SEQ-NG
2
Variome.ir
0000000206
00000202
DNA
SEQ-NG
1
Variome.ir
0000000207
00000203
DNA
SEQ-NG
1
Variome.ir
0000000210
00000206
DNA
SEQ
1
Variome.ir
0000000218
00000215
DNA
SEQ-NG
1
Variome.ir
0000000219
00000216
DNA
SEQ-NG
1
Variome.ir
0000000222
00000219
DNA
SEQ-NG
1
Variome.ir
0000000225
00000222
DNA
SEQ-NG
2
Variome.ir
0000000226
00000223
DNA
SEQ-NG
1
Variome.ir
0000000230
00000227
DNA
SEQ-NG
1
Variome.ir
0000000235
00000232
DNA
SEQ-NG
1
Variome.ir
0000000246
00000243
DNA
SEQ-NG
1
Variome.ir
0000000247
00000244
DNA
SEQ-NG
1
Variome.ir
0000000273
00000199
DNA
SEQ-NG
1
Variome.ir
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
Powered by
LOVD v.3.0
Build 27
LOVD software ©2004-2021
Leiden University Medical Center