Global Variome shared LOVD
RFC1 (replication factor C (activator 1) 1, 145kDa)
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Global Variome, with Curator vacancy
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View all transcripts of gene RFC1
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View all variants affecting transcripts
View unique variants in gene RFC1
View all variants in gene RFC1
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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-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.
81 entries on 1 page. Showing entries 1 - 81.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000250770
00249663
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250771
00249664
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250772
00249665
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250773
00249666
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250774
00249667
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250775
00249668
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250776
00249669
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250777
00249670
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250778
00249671
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250779
00249672
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250780
00249673
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250781
00249674
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250782
00249675
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250783
00249676
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250784
00249677
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250785
00249678
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250786
00249679
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250787
00249680
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250788
00249681
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250789
00249682
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250790
00249683
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250791
00249684
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250792
00249685
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250793
00249686
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250794
00249687
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250795
00249688
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250796
00249689
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250797
00249690
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250798
00249691
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250799
00249692
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250800
00249693
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250801
00249694
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250802
00249695
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250803
00249696
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250804
00249697
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250805
00249698
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250806
00249699
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250807
00249700
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250808
00249701
DNA
PCR;SEQ;Southern
-
-
2
Johan den Dunnen
0000250809
00249702
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250810
00249703
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250811
00249704
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250812
00249705
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250813
00249706
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250814
00249707
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250815
00249708
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250816
00249709
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250817
00249710
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250818
00249711
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250819
00249712
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250820
00249713
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250821
00249714
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250822
00249715
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250823
00249716
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250824
00249717
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250825
00249718
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250826
00249719
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250827
00249720
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250828
00249721
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250831
00249724
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250832
00249725
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250833
00249726
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250834
00249727
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250835
00249728
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250836
00249729
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250837
00249730
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250838
00249731
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250839
00249732
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250840
00249733
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250841
00249734
DNA
PCR;SEQ;Southern
-
WES
1
Johan den Dunnen
0000250842
00249735
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250843
00249736
DNA
PCR;SEQ;Southern
-
WES
1
Johan den Dunnen
0000250844
00249737
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250845
00249738
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250846
00249739
DNA
PCR;SEQ;Southern
-
WES
2
Johan den Dunnen
0000250847
00249740
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250848
00249741
DNA
PCR;SEQ;Southern
-
WES
1
Johan den Dunnen
0000250849
00249742
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250850
00249743
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250851
00249744
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
0000250852
00249745
DNA
PCR;SEQ;Southern
-
-
1
Johan den Dunnen
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How to query
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