Global Variome shared LOVD
PKD1 (polycystic kidney disease 1 (autosomal dominant))
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Curator:
Paola Carrera
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All screenings for gene PKD1
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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
arrayMET = array for methylation analysis
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 = single 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.
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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.
959 entries on 10 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000017038
00017058
DNA
SEQ
-
-
1
Johan den Dunnen
0000017039
00017059
DNA
SEQ
-
-
1
Johan den Dunnen
0000017042
00017062
DNA
SEQ
-
-
1
Johan den Dunnen
0000017043
00017063
DNA
SEQ
-
-
1
Johan den Dunnen
0000017915
00017932
DNA;RNA
HD;RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000017916
00017933
DNA;RNA
RT-PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000017917
00017934
DNA;RNA
HD;RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000017918
00017935
DNA
SEQ
-
-
1
Johan den Dunnen
0000017919
00017936
DNA
SEQ
-
-
1
Johan den Dunnen
0000017920
00017937
DNA
SEQ
-
-
1
Johan den Dunnen
0000017921
00017938
DNA
SEQ
-
-
1
Johan den Dunnen
0000017922
00017939
DNA
SEQ
-
-
1
Johan den Dunnen
0000017923
00017940
DNA
SEQ
-
-
-
Johan den Dunnen
0000017924
00017941
DNA
SEQ
-
-
1
Johan den Dunnen
0000017925
00017942
DNA
SEQ
-
-
-
Johan den Dunnen
0000017927
00017944
DNA
SEQ
-
-
1
Johan den Dunnen
0000017928
00017945
DNA
SEQ
-
-
1
Johan den Dunnen
0000017931
00017948
DNA
SEQ
-
-
1
Johan den Dunnen
0000017932
00017949
DNA
SEQ
-
-
1
Johan den Dunnen
0000017933
00017950
DNA
SEQ
-
-
1
Johan den Dunnen
0000017937
00017954
DNA
SEQ
-
-
1
Johan den Dunnen
0000017938
00017955
DNA
SEQ
-
-
5
Johan den Dunnen
0000017939
00017956
DNA
SEQ
-
-
1
Johan den Dunnen
0000017940
00017957
DNA
SEQ
-
-
2
Johan den Dunnen
0000017943
00017960
DNA
HD;SEQ
-
-
6
Johan den Dunnen
0000017944
00017961
DNA;RNA
PTT;RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000017945
00017962
DNA;RNA
PTT;RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000017946
00017963
DNA;RNA
PTT;RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000017947
00017964
DNA;RNA
PTT;RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000017948
00017965
DNA;RNA
PTT;RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000017949
00017966
DNA
SEQ
-
-
1
Johan den Dunnen
0000017950
00017967
DNA;RNA
PTT;RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000018026
00018043
DNA
SEQ
-
-
1
Johan den Dunnen
0000018045
00018062
DNA
SEQ
-
-
1
Johan den Dunnen
0000018046
00018063
DNA
SEQ
-
-
1
Johan den Dunnen
0000018047
00018064
DNA
SEQ
-
-
1
Johan den Dunnen
0000018298
00018315
DNA
SEQ
-
-
1
Johan den Dunnen
0000032407
00032340
DNA
SEQ;SEQ-NG
-
-
4
Johan den Dunnen
0000050078
00050133
DNA
SEQ
-
-
2
Paola Carrera
0000058805
00058842
DNA
SEQ
blood
-
2
Paola Carrera
0000058806
00058843
DNA
SEQ
blood
-
1
Paola Carrera
0000058807
00058844
DNA
SEQ
blood
-
2
Paola Carrera
0000058808
00058845
DNA
SEQ
blood
-
1
Paola Carrera
0000058809
00058846
DNA
SEQ
blood
-
1
Paola Carrera
0000058810
00058847
DNA
SEQ
blood
-
1
Paola Carrera
0000058811
00058848
DNA
SEQ
blood
-
1
Paola Carrera
0000058812
00058849
DNA
SEQ
blood
-
2
Paola Carrera
0000058813
00058850
DNA
SEQ
blood
-
1
Paola Carrera
0000058814
00058851
DNA
SEQ
blood
-
4
Paola Carrera
0000058815
00058852
DNA
SEQ
blood
-
1
Paola Carrera
0000058816
00058853
DNA
SEQ
blood
-
3
Paola Carrera
0000058817
00058854
DNA
SEQ
blood
-
1
Paola Carrera
0000058818
00058855
DNA
SEQ
blood
-
2
Paola Carrera
0000058819
00058856
DNA
SEQ
blood
-
1
Paola Carrera
0000058823
00058860
DNA
SEQ
blood
-
1
Paola Carrera
0000058824
00058861
DNA
SEQ
blood
-
1
Paola Carrera
0000058825
00058862
DNA
SEQ
blood
-
3
Paola Carrera
0000058826
00058863
DNA
SEQ
blood
-
1
Paola Carrera
0000058827
00058864
DNA
SEQ
blood
-
2
Paola Carrera
0000058829
00058866
DNA
SEQ
blood
-
2
Paola Carrera
0000058830
00058867
DNA
SEQ
blood
-
1
Paola Carrera
0000058831
00058868
DNA
SEQ
blood
-
1
Paola Carrera
0000058832
00058869
DNA
SEQ
blood
-
1
Paola Carrera
0000058833
00058870
DNA
SEQ
blood
-
3
Paola Carrera
0000058834
00058871
DNA
SEQ
blood
-
2
Paola Carrera
0000058835
00058872
DNA
SEQ
blood
-
1
Paola Carrera
0000058836
00058873
DNA
SEQ
blood
-
2
Paola Carrera
0000058837
00058874
DNA
SEQ
blood
-
3
Paola Carrera
0000058838
00058875
DNA
SEQ
blood
-
2
Paola Carrera
0000058839
00058876
DNA
SEQ
blood
-
1
Paola Carrera
0000058840
00058877
DNA
SEQ
blood
-
1
Paola Carrera
0000058841
00058878
DNA
SEQ
blood
-
1
Paola Carrera
0000058842
00058879
DNA
SEQ
blood
-
2
Paola Carrera
0000058843
00058880
DNA
SEQ
blood
-
1
Paola Carrera
0000058844
00058881
DNA
SEQ
blood
-
5
Paola Carrera
0000058845
00058882
DNA
SEQ
blood
-
3
Paola Carrera
0000058846
00058883
DNA
SEQ
blood
-
2
Paola Carrera
0000058847
00058884
DNA
SEQ
blood
-
4
Paola Carrera
0000058848
00058885
DNA
SEQ
blood
-
1
Paola Carrera
0000058849
00058886
DNA
SEQ
blood
-
1
Paola Carrera
0000058850
00058887
DNA
SEQ
blood
-
1
Paola Carrera
0000058851
00058888
DNA
SEQ
blood
-
2
Paola Carrera
0000058852
00058889
DNA
SEQ
blood
-
2
Paola Carrera
0000058853
00058890
DNA
SEQ
blood
-
1
Paola Carrera
0000058854
00058891
DNA
SEQ
blood
-
1
Paola Carrera
0000058855
00058892
DNA
SEQ
blood
-
1
Paola Carrera
0000058856
00058893
DNA
SEQ
blood
-
1
Paola Carrera
0000058857
00058894
DNA
SEQ
blood
-
3
Paola Carrera
0000058858
00058895
DNA
SEQ
blood
-
2
Paola Carrera
0000058859
00058896
DNA
SEQ
blood
-
1
Paola Carrera
0000058860
00058897
DNA
SEQ
blood
-
2
Paola Carrera
0000058861
00058898
DNA
SEQ
blood
-
2
Paola Carrera
0000058862
00058899
DNA
SEQ
blood
-
3
Paola Carrera
0000058863
00058900
DNA
SEQ
blood
-
1
Paola Carrera
0000058864
00058901
DNA
SEQ
blood
-
2
Paola Carrera
0000058865
00058902
DNA
SEQ
blood
-
2
Paola Carrera
0000058866
00058903
DNA
SEQ
blood
-
2
Paola Carrera
0000058867
00058904
DNA
SEQ
blood
-
1
Paola Carrera
0000058868
00058905
DNA
SEQ
blood
-
1
Paola Carrera
0000058869
00058906
DNA
SEQ
blood
-
2
Paola Carrera
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