Global Variome shared LOVD
SDHC (succinate dehydrogenase complex, subunit C, i...)
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Curators:
Jean-Pierre Bayley
and
Peter Taschner
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View all transcripts of gene SDHC
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View all variants affecting transcripts
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View all variants in gene SDHC
Full data view for gene SDHC
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View all individuals with variants in gene SDHC
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View all diseases associated with gene SDHC
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All screenings for gene SDHC
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.
85 entries on 1 page. Showing entries 1 - 85.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000037079
00037009
DNA
SEQ
-
-
1
Andreas Laner
0000047430
00047329
DNA
SEQ
-
-
2
James Whitworth
0000072617
00072460
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072618
00072461
DNA
DHPLC;SEQ;SSCA
-
-
1
Jean-Pierre Bayley
0000072619
00072462
DNA;RNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072620
00072463
DNA
DHPLC;SEQ;SSCA
-
-
1
Jean-Pierre Bayley
0000072621
00072464
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072622
00072465
DNA
DHPLC;SEQ;SSCA
-
-
1
Jean-Pierre Bayley
0000072623
00072466
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072624
00072467
DNA
SSCA;DHPLC;SEQ
-
-
1
Jean-Pierre Bayley
0000072625
00072468
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072701
00072544
DNA
SEQ
-
-
1
Janneke Weiss
0000072718
00072561
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072719
00072562
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072720
00072563
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072723
00072566
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072896
00072739
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072902
00072745
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072907
00072750
DNA
DHPLC;SEQ
-
-
1
Jean-Pierre Bayley
0000072913
00072756
DNA
SEQ
-
-
1
Janneke Weiss
0000072925
00072768
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072928
00072771
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072929
00072772
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072981
00072824
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072982
00072825
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072983
00072826
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072986
00072829
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072987
00072830
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072988
00072831
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072989
00072832
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000072990
00072833
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000073004
00072847
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000073005
00072848
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000073010
00072853
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000073011
00072854
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000073012
00072855
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000073013
00072856
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000073014
00072857
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000073015
00072858
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000073016
00072859
DNA
PCRm;MLPA
-
-
1
Jean-Pierre Bayley
0000073017
00072860
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000073018
00072861
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000073019
00072862
DNA
PCRm;MLPA
-
-
1
Jean-Pierre Bayley
0000073020
00072863
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000073021
00072864
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000073022
00072865
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000073023
00072866
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000073024
00072867
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000073025
00072868
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000073088
00072931
DNA
MLPA
-
-
1
Jean-Pierre Bayley
0000073096
00072939
DNA
SEQ
-
-
1
Yang Zha
0000073097
00072940
DNA
SEQ
-
-
1
Yang Zha
0000073204
00073047
DNA
SEQ
-
-
1
Rita Domingues
0000073234
00073077
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000079460
00079387
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000079461
00079388
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000079467
00079394
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000079468
00079395
DNA
?
-
-
1
Jean-Pierre Bayley
0000079469
00079396
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000079470
00079397
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000079473
00079400
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000079475
00079402
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000079485
00079412
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000079486
00079413
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000079487
00079414
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000079497
00079424
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000079498
00079425
DNA
SEQ; SEQ-NG
-
-
1
Jean-Pierre Bayley
0000079523
00079450
DNA
SEQ-NG
-
-
1
Jean-Pierre Bayley
0000079562
00079489
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000079563
00079490
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000079564
00079491
DNA
SEQ; SEQ-NG
-
-
1
Jean-Pierre Bayley
0000079565
00079492
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000079566
00079493
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000079567
00079494
DNA;RNA
SEQ
-
-
1
Jean-Pierre Bayley
0000089266
00089120
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000092420
00092280
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000092421
00092281
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000092422
00092282
DNA
SEQ
-
-
Not yet submitted
Jean-Pierre Bayley
0000092423
00092283
DNA
SEQ
-
-
1
Jean-Pierre Bayley
0000104417
00103956
DNA
SEQ
-
-
1
Shahida Flores
0000104420
00103957
DNA
SEQ
-
-
1
Shahida Flores
0000104421
00103958
DNA
PCR;SEQ
-
-
1
Shahida Flores
0000247673
00246561
DNA
SEQ
-
gene panel
2
Florentia Fostira
0000315926
00314753
DNA
SEQ
-
-
1
Johan den Dunnen
0000315927
00314753
DNA
MLPA
-
-
Not yet submitted
Johan den Dunnen
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How to query
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