Global Variome shared LOVD
ALDH5A1 (aldehyde dehydrogenase 5 family, member A1)
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Curators:
Gajja Salomons
and
Eric Wever
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All screenings for gene ALDH5A1
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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-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
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|
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'
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307 entries on 4 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000000058
00000058
DNA
SEQ-NG
-
-
18
Global Variome, with Curator vacancy
0000185890
00184923
DNA
SEQ
-
-
2
Gajja Salomons
0000185891
00184924
DNA
SEQ
-
-
2
Gajja Salomons
0000185892
00184925
DNA
SEQ
-
-
2
Gajja Salomons
0000185893
00184926
DNA
SEQ
-
-
2
Gajja Salomons
0000185894
00184927
DNA
SEQ
-
-
2
Gajja Salomons
0000185895
00184928
DNA
SEQ
-
-
2
Gajja Salomons
0000185896
00184929
DNA
SEQ
-
-
2
Gajja Salomons
0000185897
00184930
DNA
SEQ
-
-
2
Gajja Salomons
0000185898
00184931
DNA
SEQ
-
-
2
Gajja Salomons
0000185899
00184932
DNA
SEQ
-
-
2
Gajja Salomons
0000185900
00184933
DNA
SEQ
-
-
2
Gajja Salomons
0000185901
00184934
DNA
SEQ
-
-
2
Gajja Salomons
0000185902
00184935
DNA
SEQ
-
-
2
Gajja Salomons
0000185903
00184936
DNA
SEQ
-
-
2
Gajja Salomons
0000185904
00184937
DNA
SEQ
-
-
2
Gajja Salomons
0000185905
00184938
DNA
SEQ
-
-
2
Gajja Salomons
0000185906
00184939
DNA
SEQ
-
-
2
Gajja Salomons
0000185907
00184940
DNA
SEQ
-
-
2
Gajja Salomons
0000185908
00184941
DNA
SEQ
-
-
1
Gajja Salomons
0000185909
00184942
DNA
SEQ
-
-
2
Gajja Salomons
0000185910
00184943
DNA
SEQ
-
-
2
Gajja Salomons
0000185911
00184944
DNA
SEQ
-
-
2
Gajja Salomons
0000185912
00184945
DNA
SEQ
-
-
2
Gajja Salomons
0000185913
00184946
DNA
SEQ
-
-
2
Gajja Salomons
0000185914
00184947
DNA
SEQ
-
-
1
Gajja Salomons
0000185915
00184948
DNA
SEQ
-
-
2
Gajja Salomons
0000185916
00184949
DNA
SEQ
-
-
2
Gajja Salomons
0000185917
00184950
DNA
SEQ
-
-
2
Gajja Salomons
0000185918
00184951
DNA
SEQ
-
-
2
Gajja Salomons
0000185919
00184952
DNA
SEQ
-
-
2
Gajja Salomons
0000185920
00184953
DNA
SEQ
-
-
2
Gajja Salomons
0000185921
00184954
DNA
SEQ
-
-
2
Gajja Salomons
0000185922
00184955
DNA
SEQ
-
-
2
Gajja Salomons
0000185923
00184956
DNA
SEQ
-
-
2
Gajja Salomons
0000185924
00184957
DNA
SEQ
-
-
2
Gajja Salomons
0000185925
00184958
DNA
SEQ
-
-
2
Gajja Salomons
0000185926
00184959
DNA
SEQ
-
-
2
Gajja Salomons
0000185927
00184960
DNA
SEQ
-
-
2
Gajja Salomons
0000185928
00184961
DNA
SEQ
-
-
2
Gajja Salomons
0000185929
00184962
DNA
SEQ
-
-
2
Gajja Salomons
0000185930
00184963
DNA
SEQ
-
-
2
Gajja Salomons
0000185931
00184964
DNA
SEQ
-
-
2
Gajja Salomons
0000185932
00184965
DNA
SEQ
-
-
2
Gajja Salomons
0000185933
00184966
DNA
SEQ
-
-
2
Gajja Salomons
0000185934
00184967
DNA
SEQ
-
-
2
Gajja Salomons
0000185935
00184968
DNA
SEQ
-
-
2
Gajja Salomons
0000185936
00184969
DNA
SEQ
-
-
2
Gajja Salomons
0000185937
00184970
DNA
SEQ
-
-
2
Gajja Salomons
0000185938
00184971
DNA
SEQ
-
-
2
Gajja Salomons
0000185939
00184972
DNA
SEQ
-
-
2
Gajja Salomons
0000185940
00184973
DNA
SEQ
-
-
2
Gajja Salomons
0000185941
00184974
DNA
SEQ
-
-
2
Gajja Salomons
0000185942
00184975
DNA
SEQ
-
-
2
Gajja Salomons
0000185943
00184976
DNA
SEQ
-
-
2
Gajja Salomons
0000185944
00184977
DNA
SEQ
-
-
2
Gajja Salomons
0000185945
00184978
DNA
SEQ
-
-
1
Gajja Salomons
0000185946
00184979
DNA
SEQ
-
-
1
Gajja Salomons
0000185947
00184980
DNA
SEQ
-
-
2
Gajja Salomons
0000185948
00184981
DNA
SEQ
-
-
1
Gajja Salomons
0000185949
00184982
DNA
SEQ
-
-
1
Gajja Salomons
0000185950
00184983
DNA
SEQ
-
-
1
Gajja Salomons
0000185952
00184985
DNA
SEQ
-
-
1
Gajja Salomons
0000185953
00184986
DNA
SEQ
-
-
2
Gajja Salomons
0000185954
00184987
DNA
SEQ
-
-
2
Gajja Salomons
0000185955
00184988
DNA
SEQ
-
-
1
Gajja Salomons
0000185957
00184990
DNA
SEQ
-
-
2
Gajja Salomons
0000185958
00184991
DNA
SEQ
-
-
1
Gajja Salomons
0000185959
00184992
DNA
SEQ
-
-
1
Gajja Salomons
0000185960
00184993
DNA
SEQ
-
-
1
Gajja Salomons
0000185961
00184994
DNA
SEQ
-
-
2
Gajja Salomons
0000185964
00184997
DNA
SEQ
-
-
2
Gajja Salomons
0000185965
00184998
DNA
SEQ
-
-
1
Gajja Salomons
0000185966
00184999
DNA
SEQ
-
-
1
Gajja Salomons
0000185967
00185000
DNA
SEQ
-
-
2
Gajja Salomons
0000185969
00185002
DNA
SEQ
-
-
1
Gajja Salomons
0000185972
00185005
DNA
SEQ
-
-
2
Gajja Salomons
0000185973
00185006
DNA
SEQ
-
-
1
Gajja Salomons
0000185974
00185007
DNA
SEQ
-
-
1
Gajja Salomons
0000185975
00185008
DNA
SEQ
-
-
2
Gajja Salomons
0000185976
00185009
DNA
SEQ
-
-
2
Gajja Salomons
0000185977
00185010
DNA
SEQ
-
-
1
Gajja Salomons
0000185978
00185011
DNA
SEQ
-
-
1
Gajja Salomons
0000185979
00185012
DNA
SEQ
-
-
1
Gajja Salomons
0000185980
00185013
DNA
SEQ
-
-
1
Gajja Salomons
0000185981
00185014
DNA
SEQ
-
-
2
Gajja Salomons
0000185982
00185015
DNA
SEQ
-
-
1
Gajja Salomons
0000185983
00185016
DNA
SEQ
-
-
1
Gajja Salomons
0000185984
00185017
DNA
SEQ
-
-
1
Gajja Salomons
0000185986
00185019
DNA
SEQ
-
-
2
Gajja Salomons
0000185987
00185020
DNA
SEQ
-
-
1
Gajja Salomons
0000185988
00185021
DNA
SEQ
-
-
1
Gajja Salomons
0000185989
00185022
DNA
SEQ
-
-
2
Gajja Salomons
0000185990
00185023
DNA
SEQ
-
-
2
Gajja Salomons
0000185991
00185024
DNA
SEQ
-
-
1
Gajja Salomons
0000185992
00185025
DNA
SEQ
-
-
1
Gajja Salomons
0000185993
00185026
DNA
SEQ
-
-
2
Gajja Salomons
0000185994
00185027
DNA
SEQ
-
-
1
Gajja Salomons
0000185995
00185028
DNA
SEQ
-
-
2
Gajja Salomons
0000185996
00185029
DNA
SEQ
-
-
1
Gajja Salomons
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