Global Variome shared LOVD
TERT (telomerase reverse transcriptase)
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Curator:
Global Variome, with Curator vacancy
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View TERT gene homepage
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View all transcripts of gene TERT
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View all variants affecting transcripts
View unique variants in gene TERT
View all variants in gene TERT
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View all individuals with variants in gene TERT
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View all diseases associated with gene TERT
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View available phenotype columns
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View all screenings for gene TERT
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All screenings for gene TERT
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
arrayMET = array for methylation analysis
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 = single 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
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
0000081099
00080987
DNA
SEQ;SEQ-NG
-
-
1
Daniel Trujillano
0000105605
00105132
DNA
SEQ
-
-
1
Johan den Dunnen
0000105606
00105133
DNA
SEQ
-
-
1
Johan den Dunnen
0000105607
00105134
DNA
SEQ
-
-
1
Johan den Dunnen
0000105608
00105135
DNA
SEQ
-
-
1
Johan den Dunnen
0000105609
00105136
DNA
SEQ
-
-
1
Johan den Dunnen
0000105610
00105137
DNA
SEQ
-
-
1
Johan den Dunnen
0000105611
00105138
DNA
SEQ
-
-
1
Johan den Dunnen
0000105612
00105139
DNA
SEQ
-
-
1
Johan den Dunnen
0000105613
00105140
DNA
SEQ
-
-
1
Johan den Dunnen
0000105614
00105141
DNA
SEQ
-
-
1
Johan den Dunnen
0000105615
00105142
DNA
SEQ
-
-
1
Johan den Dunnen
0000105616
00105143
DNA
SEQ
-
-
1
Johan den Dunnen
0000105617
00105144
DNA
SEQ
-
-
1
Johan den Dunnen
0000105618
00105145
DNA
SEQ
-
-
1
Johan den Dunnen
0000105619
00105146
DNA
SEQ
-
-
1
Johan den Dunnen
0000105620
00105147
DNA
SEQ
-
-
1
Johan den Dunnen
0000105621
00105148
DNA
SEQ
-
-
1
Johan den Dunnen
0000105622
00105149
DNA
SEQ
-
-
1
Johan den Dunnen
0000105623
00105150
DNA
SEQ
-
-
1
Johan den Dunnen
0000105624
00105151
DNA
SEQ
-
-
1
Johan den Dunnen
0000105625
00105152
DNA
SEQ
-
-
1
Johan den Dunnen
0000105626
00105153
DNA
SEQ
-
-
1
Johan den Dunnen
0000105627
00105154
DNA
SEQ
-
-
1
Johan den Dunnen
0000105628
00105155
DNA
SEQ
-
-
1
Johan den Dunnen
0000105629
00105156
DNA
SEQ
-
-
1
Johan den Dunnen
0000105630
00105157
DNA
SEQ
-
-
1
Johan den Dunnen
0000105631
00105158
DNA
SEQ
-
-
1
Johan den Dunnen
0000105632
00105159
DNA
SEQ
-
-
1
Johan den Dunnen
0000105633
00105160
DNA
SEQ
-
-
1
Johan den Dunnen
0000105634
00105161
DNA
SEQ
-
-
1
Johan den Dunnen
0000105635
00105162
DNA
SEQ
-
-
1
Johan den Dunnen
0000105636
00105163
DNA
SEQ
-
-
1
Johan den Dunnen
0000105637
00105164
DNA
SEQ
-
-
1
Johan den Dunnen
0000105638
00105165
DNA
SEQ
-
-
1
Johan den Dunnen
0000105639
00105166
DNA
SEQ
-
-
1
Johan den Dunnen
0000105640
00105167
DNA
SEQ
-
-
1
Johan den Dunnen
0000105641
00105168
DNA
SEQ
-
-
1
Johan den Dunnen
0000105642
00105169
DNA
SEQ
-
-
1
Johan den Dunnen
0000105643
00105170
DNA
SEQ
-
-
1
Johan den Dunnen
0000105644
00105171
DNA
SEQ
-
-
1
Johan den Dunnen
0000105645
00105172
DNA
SEQ
-
-
1
Johan den Dunnen
0000105646
00105173
DNA
SEQ
-
-
1
Johan den Dunnen
0000105647
00105174
DNA
SEQ
-
-
1
Johan den Dunnen
0000105648
00105175
DNA
SEQ
-
-
1
Johan den Dunnen
0000105649
00105176
DNA
SEQ
-
-
1
Johan den Dunnen
0000105650
00105177
DNA
SEQ
-
-
1
Johan den Dunnen
0000105651
00105178
DNA
SEQ
-
-
1
Johan den Dunnen
0000105652
00105179
DNA
SEQ
-
-
1
Johan den Dunnen
0000105653
00105180
DNA
SEQ
-
-
1
Johan den Dunnen
0000105654
00105181
DNA
SEQ
-
-
1
Johan den Dunnen
0000105655
00105182
DNA
SEQ
-
-
1
Johan den Dunnen
0000105656
00105183
DNA
SEQ
-
-
1
Johan den Dunnen
0000105657
00105184
DNA
SEQ
-
-
1
Johan den Dunnen
0000105658
00105185
DNA
SEQ
-
-
1
Johan den Dunnen
0000105659
00105186
DNA
SEQ
-
-
1
Johan den Dunnen
0000105660
00105187
DNA
SEQ
-
-
1
Johan den Dunnen
0000105661
00105188
DNA
SEQ
-
-
1
Johan den Dunnen
0000105662
00105189
DNA
SEQ
-
-
1
Johan den Dunnen
0000105663
00105190
DNA
SEQ
-
-
1
Johan den Dunnen
0000105664
00105191
DNA
SEQ
-
-
1
Johan den Dunnen
0000105665
00105192
DNA
SEQ
-
-
1
Johan den Dunnen
0000105666
00105193
DNA
SEQ
-
-
1
Johan den Dunnen
0000105667
00105194
DNA
SEQ
-
-
1
Johan den Dunnen
0000105668
00105195
DNA
SEQ
-
-
1
Johan den Dunnen
0000105669
00105196
DNA
SEQ
-
-
1
Johan den Dunnen
0000105670
00105197
DNA
SEQ
-
-
1
Johan den Dunnen
0000105671
00105198
DNA
SEQ
-
-
1
Johan den Dunnen
0000105672
00105199
DNA
SEQ
-
-
1
Johan den Dunnen
0000105673
00105200
DNA
SEQ
-
-
1
Johan den Dunnen
0000105674
00105201
DNA
SEQ
-
-
1
Johan den Dunnen
0000105675
00105202
DNA
SEQ
-
-
1
Johan den Dunnen
0000105676
00105203
DNA
SEQ
-
-
1
Johan den Dunnen
0000105677
00105204
DNA
SEQ
-
-
1
Johan den Dunnen
0000105678
00105205
DNA
SEQ
-
-
1
Johan den Dunnen
0000105679
00105206
DNA
SEQ
-
-
1
Johan den Dunnen
0000105680
00105207
DNA
SEQ
-
-
1
Johan den Dunnen
0000105681
00105208
DNA
SEQ
-
-
1
Johan den Dunnen
0000105682
00105209
DNA
SEQ
-
-
1
Johan den Dunnen
0000296795
00295624
DNA
SEQ-NG
-
-
1
Joanne van der Vis
0000309849
00308704
DNA
SEQ;SEQ-NG
-
105 WGS/200 WES
1
Global Variome, with Curator vacancy
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