Global Variome shared LOVD
ALPL (alkaline phosphatase, liver/bone/kidney)
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Curator:
Global Variome, with Curator vacancy
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View ALPL gene homepage
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View all transcripts of gene ALPL
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View all variants affecting transcripts
View unique variants in gene ALPL
View all variants in gene ALPL
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View all individuals with variants in gene ALPL
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View all diseases associated with gene ALPL
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All screenings for gene ALPL
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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.
644 entries on 7 pages. Showing entries 1 - 100.
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How to query
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000000020
00000020
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000021
00000021
DNA
SEQ-NG
-
-
7
Global Variome, with Curator vacancy
0000000022
00000022
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000023
00000023
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000144054
00143197
DNA
SEQ
blood
-
1
Dr. Alexandra Wey-Fabrizius
0000144619
00143761
DNA
SEQ
blood
-
2
Dr. Alexandra Wey-Fabrizius
0000307027
00305896
DNA
SEQ-NG
-
-
2
Sha Hong
0000325719
00324527
DNA
SEQ
-
-
1
Johan den Dunnen
0000325720
00324528
DNA
SEQ
-
-
1
Johan den Dunnen
0000325721
00324529
DNA
DHPLC
-
-
1
Johan den Dunnen
0000325722
00324530
DNA
SEQ
-
-
1
Johan den Dunnen
0000325723
00324531
DNA
SEQ
-
-
1
Johan den Dunnen
0000325724
00324532
DNA
SEQ
-
-
1
Johan den Dunnen
0000325725
00324533
DNA
SEQ
-
-
1
Johan den Dunnen
0000325726
00324534
DNA
SEQ
-
-
1
Johan den Dunnen
0000325727
00324535
DNA
SEQ
-
-
1
Johan den Dunnen
0000325728
00324536
DNA
SEQ
-
-
1
Johan den Dunnen
0000325729
00324537
DNA
SEQ
-
-
1
Johan den Dunnen
0000325730
00324538
DNA
SSCA
-
-
1
Johan den Dunnen
0000325731
00324539
DNA
SEQ
-
-
1
Johan den Dunnen
0000325732
00324540
DNA
SEQ
-
-
1
Johan den Dunnen
0000325733
00324541
DNA
SEQ
-
-
1
Johan den Dunnen
0000325734
00324542
DNA
SEQ
-
-
1
Johan den Dunnen
0000325735
00324543
DNA
SEQ
-
-
1
Johan den Dunnen
0000325736
00324544
DNA
SEQ
-
-
1
Johan den Dunnen
0000325738
00324546
DNA
SEQ
-
-
1
Johan den Dunnen
0000325739
00324547
DNA
PCRq;SEQ
-
-
1
Johan den Dunnen
0000325741
00324549
DNA
SEQ
-
-
2
Johan den Dunnen
0000325742
00324550
DNA
SEQ
-
-
1
Johan den Dunnen
0000325743
00324551
DNA
SEQ
-
-
2
Johan den Dunnen
0000325744
00324552
DNA
SEQ
-
-
1
Johan den Dunnen
0000325745
00324553
DNA
SEQ
-
-
2
Johan den Dunnen
0000325746
00324554
DNA
SEQ
-
-
2
Johan den Dunnen
0000325747
00324555
DNA
SEQ
-
-
1
Johan den Dunnen
0000325748
00324556
DNA
SEQ
-
-
1
Johan den Dunnen
0000325749
00324557
DNA
SEQ
-
-
1
Johan den Dunnen
0000325750
00324558
DNA
SEQ
-
-
1
Johan den Dunnen
0000325751
00324559
DNA
SEQ
-
-
1
Johan den Dunnen
0000325846
00324647
DNA
SEQ
-
-
2
Johan den Dunnen
0000325847
00324648
DNA
SEQ
-
-
2
Johan den Dunnen
0000325848
00324649
DNA
SEQ
-
-
2
Johan den Dunnen
0000325849
00324650
DNA
SEQ
-
-
1
Johan den Dunnen
0000325850
00324651
DNA
SEQ
-
-
2
Johan den Dunnen
0000325851
00324652
DNA
SEQ
-
-
2
Johan den Dunnen
0000325873
00324665
DNA
SEQ
-
-
1
Johan den Dunnen
0000325874
00324666
DNA
SEQ
-
-
2
Johan den Dunnen
0000325875
00324667
DNA
SEQ
-
-
1
Johan den Dunnen
0000325876
00324668
DNA
SEQ
-
-
2
Johan den Dunnen
0000325877
00324669
DNA
SEQ
-
-
1
Johan den Dunnen
0000325878
00324670
DNA
SEQ
-
-
1
Johan den Dunnen
0000325879
00324671
DNA
SEQ
-
-
1
Johan den Dunnen
0000325880
00324672
DNA
SEQ
-
-
2
Johan den Dunnen
0000325881
00324673
DNA
SEQ
-
-
1
Johan den Dunnen
0000325882
00324674
DNA
SEQ
-
-
2
Johan den Dunnen
0000325883
00324675
DNA
SEQ
-
-
2
Johan den Dunnen
0000325894
00324687
DNA;RNA
RT-PCR;SEQ
-
-
6
Johan den Dunnen
0000325895
00324688
DNA
SEQ
-
-
2
Johan den Dunnen
0000325898
00324691
DNA
SEQ
-
-
1
Johan den Dunnen
0000325899
00324692
DNA
SEQ
-
-
1
Johan den Dunnen
0000325900
00324693
DNA
SEQ
-
-
1
Johan den Dunnen
0000325901
00324694
DNA
SEQ
-
-
1
Johan den Dunnen
0000325902
00324695
DNA
SEQ
-
-
1
Johan den Dunnen
0000325903
00324696
DNA
SEQ
-
-
1
Johan den Dunnen
0000325904
00324697
DNA
SEQ
-
-
1
Johan den Dunnen
0000325905
00324698
DNA
SEQ
-
-
1
Johan den Dunnen
0000325906
00324699
DNA
SEQ
-
-
1
Johan den Dunnen
0000325907
00324700
DNA
SEQ
-
-
1
Johan den Dunnen
0000325908
00324701
DNA
SEQ
-
-
1
Johan den Dunnen
0000325909
00324702
DNA
SEQ
-
-
1
Johan den Dunnen
0000325910
00324703
DNA
SEQ
-
-
1
Johan den Dunnen
0000325911
00324704
DNA
SEQ
-
-
1
Johan den Dunnen
0000325912
00324705
DNA
SEQ
-
-
1
Johan den Dunnen
0000325913
00324706
DNA
SEQ
-
-
1
Johan den Dunnen
0000325914
00324707
DNA
SEQ
-
-
1
Johan den Dunnen
0000325915
00324708
DNA
SEQ
-
-
1
Johan den Dunnen
0000325916
00324709
DNA
SEQ
-
-
1
Johan den Dunnen
0000325917
00324710
DNA
SEQ
-
-
1
Johan den Dunnen
0000325918
00324711
DNA
SEQ
-
-
1
Johan den Dunnen
0000325919
00324712
DNA
SEQ
-
-
1
Johan den Dunnen
0000325920
00324713
DNA
SEQ
-
-
1
Johan den Dunnen
0000325921
00324714
DNA
SEQ
-
-
1
Johan den Dunnen
0000325922
00324715
DNA
SEQ
-
-
1
Johan den Dunnen
0000325923
00324716
DNA
SEQ
-
-
1
Johan den Dunnen
0000325924
00324717
DNA
SEQ
-
-
1
Johan den Dunnen
0000325925
00324718
DNA
SEQ
-
-
1
Johan den Dunnen
0000325926
00324719
DNA
SEQ
-
-
1
Johan den Dunnen
0000325927
00324720
DNA
SEQ
-
-
1
Johan den Dunnen
0000325928
00324721
DNA
SEQ
-
-
1
Johan den Dunnen
0000325929
00324722
DNA
SEQ
-
-
1
Johan den Dunnen
0000325930
00324723
DNA
SEQ
-
-
1
Johan den Dunnen
0000325931
00324724
DNA
SEQ
-
-
1
Johan den Dunnen
0000325932
00324725
DNA
SEQ
-
-
1
Johan den Dunnen
0000325933
00324726
DNA
SEQ
-
-
1
Johan den Dunnen
0000325934
00324727
DNA
SEQ
-
-
1
Johan den Dunnen
0000325935
00324728
DNA
SEQ
-
-
1
Johan den Dunnen
0000325936
00324729
DNA
SEQ
-
-
1
Johan den Dunnen
0000325937
00324730
DNA
SEQ
-
-
1
Johan den Dunnen
0000325938
00324731
DNA
SEQ
-
-
1
Johan den Dunnen
0000325939
00324732
DNA
SEQ
-
-
1
Johan den Dunnen
0000325940
00324733
DNA
SEQ
-
-
1
Johan den Dunnen
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