Global Variome shared LOVD
SHOX (short stature homeobox)
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Curators:
Gudrun Rappold
and
Ralph Roeth
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View SHOX gene homepage
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View all transcripts of gene SHOX
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View all variants affecting transcripts
View unique variants in gene SHOX
View all variants in gene SHOX
Full data view for gene SHOX
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View all individuals with variants in gene SHOX
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View all diseases associated with gene SHOX
Create a new disease information entry
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View all screenings for gene SHOX
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All screenings for gene SHOX
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.
531 entries on 6 pages. Showing entries 1 - 100.
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How to query
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000050079
00050134
DNA
SEQ
-
-
1
Johan den Dunnen
0000080866
00080753
DNA
SEQ
Peripheral blood
-
1
Robert Pogue
0000115531
00115074
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115532
00115075
DNA
SEQ
-
-
1
Ralph Roeth
0000115533
00115076
DNA
SEQ
-
-
1
Ralph Roeth
0000115534
00115077
DNA
PCRdig;SEQ
-
-
1
Ralph Roeth
0000115535
00115078
DNA
SEQ
-
-
1
Ralph Roeth
0000115536
00115079
DNA
SEQ
-
-
1
Ralph Roeth
0000115537
00115080
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115538
00115081
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115539
00115082
DNA
SEQ
-
-
1
Ralph Roeth
0000115540
00115083
DNA
SEQ
-
-
1
Ralph Roeth
0000115541
00115084
DNA
SEQ
-
-
1
Ralph Roeth
0000115542
00115085
DNA
SEQ
-
-
1
Ralph Roeth
0000115543
00115086
DNA
SEQ
-
-
1
Ralph Roeth
0000115544
00115087
DNA
SEQ
-
-
1
Ralph Roeth
0000115545
00115088
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115546
00115089
DNA
SEQ;SSCA
-
-
1
Ralph Roeth
0000115547
00115090
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115548
00115091
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115549
00115092
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115550
00115093
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115551
00115094
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115552
00115095
DNA
SEQ
-
-
1
Ralph Roeth
0000115553
00115096
DNA
SEQ;SSCA
-
-
1
Ralph Roeth
0000115554
00115097
DNA
SEQ
-
-
1
Ralph Roeth
0000115555
00115098
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115556
00115099
DNA
SEQ
-
-
1
Ralph Roeth
0000115557
00115100
DNA
SEQ
-
-
1
Ralph Roeth
0000115558
00115101
DNA
SEQ
-
-
1
Ralph Roeth
0000115559
00115102
DNA
SEQ;SSCA
-
-
1
Ralph Roeth
0000115560
00115103
DNA
SEQ
-
-
1
Ralph Roeth
0000115561
00115104
DNA
SEQ
-
-
1
Ralph Roeth
0000115562
00115105
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115563
00115106
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115564
00115107
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115565
00115108
DNA
SEQ
-
-
1
Ralph Roeth
0000115566
00115109
DNA
SEQ
-
-
1
Ralph Roeth
0000115567
00115110
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115568
00115111
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115569
00115112
DNA
SEQ
-
-
1
Ralph Roeth
0000115570
00115113
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115571
00115114
DNA
SEQ
-
-
1
Ralph Roeth
0000115572
00115115
DNA
SEQ
-
-
1
Ralph Roeth
0000115573
00115116
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115574
00115117
DNA
SEQ
-
-
1
Ralph Roeth
0000115575
00115118
DNA
SEQ
-
-
1
Ralph Roeth
0000115576
00115119
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115577
00115120
DNA
PCRdig;SEQ
-
-
1
Ralph Roeth
0000115578
00115121
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115579
00115122
DNA
SEQ
-
-
1
Ralph Roeth
0000115580
00115123
DNA
SEQ
-
-
1
Ralph Roeth
0000115581
00115124
DNA
SEQ
-
-
1
Ralph Roeth
0000115582
00115125
DNA
SEQ
-
-
1
Ralph Roeth
0000115583
00115126
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115584
00115127
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115585
00115128
DNA
SEQ
-
-
1
Ralph Roeth
0000115586
00115129
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115587
00115130
DNA
FISH
-
-
2
Ralph Roeth
0000115588
00115131
DNA
SEQ
-
-
1
Ralph Roeth
0000115589
00115132
DNA
SEQ
-
-
1
Ralph Roeth
0000115590
00115133
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115591
00115134
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115592
00115135
DNA
SEQ
-
-
1
Ralph Roeth
0000115593
00115136
DNA
SEQ
-
-
1
Ralph Roeth
0000115594
00115137
DNA
SEQ
-
-
1
Ralph Roeth
0000115595
00115138
DNA
SEQ
-
-
1
Ralph Roeth
0000115596
00115139
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115597
00115140
DNA
SEQ
-
-
1
Ralph Roeth
0000115598
00115141
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115599
00115142
DNA
SEQ
-
-
1
Ralph Roeth
0000115600
00115143
DNA
SEQ
-
-
1
Ralph Roeth
0000115601
00115144
DNA
SEQ
-
-
1
Ralph Roeth
0000115602
00115145
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115603
00115146
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115604
00115147
DNA
SEQ
-
-
1
Ralph Roeth
0000115605
00115148
DNA
SEQ
-
-
1
Ralph Roeth
0000115606
00115149
DNA
SEQ
-
-
1
Ralph Roeth
0000115607
00115150
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115608
00115151
DNA
SEQ
-
-
1
Ralph Roeth
0000115609
00115152
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115610
00115153
DNA
SEQ
-
-
1
Ralph Roeth
0000115611
00115154
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115612
00115155
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115613
00115156
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115614
00115157
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115615
00115158
DNA
SEQ
-
-
1
Ralph Roeth
0000115616
00115159
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115617
00115160
DNA
SEQ
-
-
1
Ralph Roeth
0000115618
00115161
DNA
SEQ
-
-
1
Ralph Roeth
0000115619
00115162
DNA
SEQ;SSCA
-
-
1
Ralph Roeth
0000115620
00115163
DNA
SEQ;SSCA
-
-
1
Ralph Roeth
0000115621
00115164
DNA
SEQ;SSCA
-
-
1
Ralph Roeth
0000115622
00115165
DNA
DHPLC;SEQ
-
-
2
Ralph Roeth
0000115623
00115166
DNA
SEQ
-
-
1
Ralph Roeth
0000115624
00115167
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115625
00115168
DNA
SEQ
-
-
1
Ralph Roeth
0000115626
00115169
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115627
00115170
DNA
DHPLC;SEQ
-
-
1
Ralph Roeth
0000115628
00115171
DNA
SEQ
-
-
1
Ralph Roeth
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