Global Variome shared LOVD
RP1 (retinitis pigmentosa 1 (autosomal dominant))
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View all transcripts of gene RP1
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View all variants affecting transcripts
View unique variants in gene RP1
View all variants in gene RP1
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View all diseases associated with gene RP1
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All screenings for gene RP1
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
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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.
1630 entries on 17 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
0000000197
00000202
DNA
PCR
-
-
2
Susan Treves
0000000198
00000201
DNA
PCR
-
-
2
Susan Treves
0000019887
00019894
DNA
SEQ
-
-
1
Marianne Vos (LOVD-team)
0000032930
00032862
DNA
SEQ
-
-
2
Christina Zeitz
0000032931
00032863
DNA
SEQ
-
-
2
Christina Zeitz
0000032932
00032864
DNA
SEQ
-
-
2
Christina Zeitz
0000032933
00032865
DNA
SEQ
-
-
2
Christina Zeitz
0000032934
00032866
DNA
SEQ
-
-
1
Christina Zeitz
0000032935
00032867
DNA
SEQ
-
-
1
Christina Zeitz
0000032936
00032868
DNA
SEQ
-
-
2
Christina Zeitz
0000032937
00032869
DNA
SEQ
-
-
2
Christina Zeitz
0000032938
00032870
DNA
SEQ
-
-
1
Christina Zeitz
0000032939
00032871
DNA
SEQ
-
-
1
Christina Zeitz
0000032940
00032872
DNA
SEQ
-
-
1
Christina Zeitz
0000032941
00032873
DNA
SEQ
-
-
1
Christina Zeitz
0000032942
00032874
DNA
SEQ
-
-
2
Christina Zeitz
0000032943
00032875
DNA
SEQ
-
-
1
Christina Zeitz
0000032944
00032876
DNA
SEQ
-
-
1
Christina Zeitz
0000032945
00032877
DNA
SEQ
-
-
1
Christina Zeitz
0000032946
00032878
DNA
SEQ
-
-
1
Christina Zeitz
0000032947
00032879
DNA
SEQ
-
-
1
Christina Zeitz
0000032948
00032880
DNA
SEQ
-
-
1
Christina Zeitz
0000032949
00032881
DNA
SEQ
-
-
1
Christina Zeitz
0000032950
00032882
DNA
SEQ
-
-
1
Christina Zeitz
0000032951
00032883
DNA
SEQ
-
-
1
Christina Zeitz
0000032952
00032884
DNA
SEQ
-
-
1
Christina Zeitz
0000032953
00032885
DNA
SEQ
-
-
1
Christina Zeitz
0000032954
00032886
DNA
SEQ
-
-
1
Christina Zeitz
0000032955
00032887
DNA
SEQ
-
-
1
Christina Zeitz
0000032956
00032888
DNA
SEQ
-
-
1
Christina Zeitz
0000032957
00032889
DNA
SEQ
-
-
1
Christina Zeitz
0000032958
00032890
DNA
SEQ
-
-
1
Christina Zeitz
0000032959
00032891
DNA
SEQ
-
-
1
Christina Zeitz
0000032960
00032892
DNA
SEQ
-
-
1
Christina Zeitz
0000032961
00032893
DNA
SEQ
-
-
1
Christina Zeitz
0000032962
00032894
DNA
SEQ
-
-
1
Christina Zeitz
0000032963
00032895
DNA
SEQ
-
-
1
Christina Zeitz
0000032964
00032896
DNA
SEQ
-
-
1
Christina Zeitz
0000032965
00032897
DNA
SEQ
-
-
1
Christina Zeitz
0000032966
00032898
DNA
SEQ
-
-
1
Christina Zeitz
0000032967
00032899
DNA
SEQ
-
-
1
Christina Zeitz
0000032968
00032900
DNA
SEQ
-
-
1
Christina Zeitz
0000032969
00032901
DNA
SEQ
-
-
1
Christina Zeitz
0000032970
00032902
DNA
SEQ
-
-
1
Christina Zeitz
0000032971
00032903
DNA
SEQ
-
-
2
Christina Zeitz
0000032972
00032904
DNA
SEQ
-
-
1
Christina Zeitz
0000032973
00032905
DNA
SEQ
-
-
2
Christina Zeitz
0000032974
00032906
DNA
SEQ
-
-
2
Christina Zeitz
0000032975
00032907
DNA
SEQ
-
-
2
Christina Zeitz
0000032976
00032908
DNA
SEQ
-
-
1
Christina Zeitz
0000032977
00032909
DNA
SEQ
-
-
1
Christina Zeitz
0000032978
00032910
DNA
SEQ
-
-
1
Christina Zeitz
0000032979
00032911
DNA
SEQ
-
-
1
Christina Zeitz
0000032980
00032912
DNA
SEQ
-
-
1
Christina Zeitz
0000032981
00032913
DNA
SEQ
-
-
1
Christina Zeitz
0000032982
00032914
DNA
SEQ
-
-
1
Christina Zeitz
0000032983
00032915
DNA
SEQ
-
-
1
Christina Zeitz
0000032984
00032916
DNA
SEQ
-
-
1
Christina Zeitz
0000032985
00032917
DNA
SEQ
-
-
1
Christina Zeitz
0000032986
00032918
DNA
SEQ
-
-
1
Christina Zeitz
0000032987
00032919
DNA
SEQ
-
-
1
Christina Zeitz
0000032988
00032920
DNA
SEQ
-
-
1
Christina Zeitz
0000032989
00032921
DNA
SEQ
-
-
1
Christina Zeitz
0000032990
00032922
DNA
SEQ
-
-
1
Christina Zeitz
0000032991
00032923
DNA
SEQ
-
-
1
Christina Zeitz
0000032992
00032924
DNA
SEQ
-
-
2
Christina Zeitz
0000032993
00032925
DNA
SEQ
-
-
1
Christina Zeitz
0000032994
00032926
DNA
SEQ
-
-
1
Christina Zeitz
0000032995
00032927
DNA
SEQ
-
-
1
Christina Zeitz
0000032996
00032928
DNA
SEQ
-
-
1
Johan den Dunnen
0000032997
00032929
DNA
SEQ
-
-
1
Christina Zeitz
0000032998
00032930
DNA
SEQ
-
-
1
Christina Zeitz
0000032999
00032931
DNA
SEQ
-
-
1
Christina Zeitz
0000033000
00032932
DNA
SEQ
-
-
1
Christina Zeitz
0000033001
00032933
DNA
SEQ
-
-
1
Christina Zeitz
0000033002
00032934
DNA
SEQ
-
-
1
Christina Zeitz
0000033003
00032935
DNA
SEQ
-
-
1
Christina Zeitz
0000033004
00032936
DNA
SEQ
-
-
1
Christina Zeitz
0000033005
00032937
DNA
SEQ
-
-
1
Christina Zeitz
0000033006
00032938
DNA
SEQ
-
-
1
Christina Zeitz
0000033007
00032939
DNA
SEQ
-
-
1
Christina Zeitz
0000033008
00032940
DNA
SEQ
-
-
1
Christina Zeitz
0000033009
00032941
DNA
SEQ
-
-
1
Christina Zeitz
0000033010
00032942
DNA
SEQ
-
-
1
Christina Zeitz
0000033011
00032943
DNA
SEQ
-
-
1
Christina Zeitz
0000033012
00032944
DNA
SEQ
-
-
1
Christina Zeitz
0000033013
00032945
DNA
SEQ
-
-
2
Christina Zeitz
0000033014
00032946
DNA
SEQ
-
-
1
Christina Zeitz
0000033015
00032947
DNA
SEQ
-
-
1
Christina Zeitz
0000033016
00032948
DNA
SEQ
-
-
1
Christina Zeitz
0000033017
00032949
DNA
SEQ
-
-
1
Christina Zeitz
0000033018
00032950
DNA
SEQ
-
-
1
Christina Zeitz
0000033019
00032951
DNA
SEQ
-
-
1
Christina Zeitz
0000033020
00032952
DNA
SEQ
-
-
1
Christina Zeitz
0000033021
00032953
DNA
SEQ
-
-
1
Christina Zeitz
0000033022
00032954
DNA
SEQ
-
-
1
Christina Zeitz
0000033023
00032955
DNA
SEQ
-
-
1
Christina Zeitz
0000033024
00032956
DNA
SEQ
-
-
1
Christina Zeitz
0000033025
00032957
DNA
SEQ
-
-
1
Christina Zeitz
0000033026
00032958
DNA
SEQ
-
-
1
Christina Zeitz
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