All screenings for gene SPATA7

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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
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'

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98 entries on 1 page. Showing entries 1 - 98.

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How to query

Screening ID	Individual ID	Template	Technique	Tissue	Remarks	Variants found	Owner
0000033189	00033121	DNA	SEQ;SEQ-NG-S	-	-	2	Kornelia Neveling
0000033756	00033688	DNA	SEQ	-	-	1	Soumittra Nagasamy
0000081116	00081004	DNA	SEQ;SEQ-NG	-	-	1	Daniel Trujillano
0000156417	00155552	DNA	SEQ	-	-	1	Dror Sharon
0000234349	00233250	DNA	SEQ-NG	-	-	1	Yoshito Koyanagi
0000234350	00233251	DNA	SEQ-NG	-	-	1	Yoshito Koyanagi
0000234351	00233252	DNA	SEQ-NG	-	-	1	Yoshito Koyanagi
0000234352	00233253	DNA	SEQ-NG	-	-	1	Yoshito Koyanagi
0000234353	00233254	DNA	SEQ-NG	-	-	1	Yoshito Koyanagi
0000234354	00233255	DNA	SEQ-NG	-	-	1	Yoshito Koyanagi
0000234355	00233256	DNA	SEQ-NG	-	-	1	Yoshito Koyanagi
0000234356	00233257	DNA	SEQ-NG	-	-	1	Yoshito Koyanagi
0000234357	00233258	DNA	SEQ-NG	-	-	1	Yoshito Koyanagi
0000234358	00233259	DNA	SEQ-NG	-	-	1	Yoshito Koyanagi
0000234359	00233260	DNA	SEQ-NG	-	-	1	Yoshito Koyanagi
0000234360	00233261	DNA	SEQ-NG	-	-	1	Yoshito Koyanagi
0000234361	00233262	DNA	SEQ-NG	-	-	1	Yoshito Koyanagi
0000234362	00233263	DNA	SEQ-NG	-	-	1	Yoshito Koyanagi
0000234876	00233777	DNA	SEQ-NG	-	-	1	Yoshito Koyanagi
0000234877	00233778	DNA	SEQ-NG	-	-	1	Yoshito Koyanagi
0000234878	00233779	DNA	SEQ-NG	-	-	1	Yoshito Koyanagi
0000234879	00233780	DNA	SEQ-NG	-	-	1	Yoshito Koyanagi
0000270575	00269432	DNA	SEQ-NG	blood	-	1	Jinu Han
0000310571	00309426	DNA	SEQ	-	-	1	Global Variome, with Curator vacancy
0000310572	00309427	DNA	SEQ	-	-	1	Global Variome, with Curator vacancy
0000310573	00309428	DNA	SEQ	-	-	1	Global Variome, with Curator vacancy
0000326624	00325413	DNA	SEQ;SEQ-NG	-	199 gene panel	1	Johan den Dunnen
0000333490	00332270	DNA	SEQ-NG	-	300-gene panel	2	LOVD
0000333578	00332355	DNA	SEQ	-	-	1	LOVD
0000333678	00332454	DNA	SEQ-NG	-	150-gene panel	2	LOVD
0000334689	00333464	DNA	SEQ	-	-	2	LOVD
0000334707	00333482	DNA	SEQ	-	-	2	LOVD
0000336399	00335170	DNA	SEQ-NG	-	gene panel	2	LOVD
0000336628	00335399	DNA	SEQ-NG	-	283-gene panel	2	LOVD
0000360144	00358911	DNA	SEQ-NG	-	gene panel	2	LOVD
0000360145	00358912	DNA	SEQ-NG	-	gene panel	2	LOVD
0000364876	00363648	DNA	SEQ-NG	-	gene panel	1	LOVD
0000364879	00363651	DNA	SEQ-NG	-	gene panel	1	LOVD
0000364880	00363652	DNA	SEQ-NG	-	gene panel	1	LOVD
0000364885	00363657	DNA	SEQ-NG	-	gene panel	1	LOVD
0000373303	00372075	DNA	arraySNP;SEQ	-	-	1	LOVD
0000373688	00372455	DNA	SEQ-NG	-	163-gene panel	2	LOVD
0000373691	00372458	DNA	SEQ-NG	-	163-gene panel	1	LOVD
0000373725	00372492	DNA	SEQ-NG	-	163-gene panel	2	LOVD
0000375129	00373897	DNA	SEQ-NG	-	238-gene panel	2	LOVD
0000376640	00375443	DNA	SEQ-NG	-	162-gene panel	1	LOVD
0000379088	00377884	DNA	PCR; SEQ	blood	-	2	LOVD
0000379089	00377885	DNA	PCR; SEQ	blood	-	2	LOVD
0000379100	00377896	DNA	PCR; SEQ	blood	-	1	LOVD
0000379101	00377897	DNA	PCR; SEQ	blood	-	1	LOVD
0000381098	00379896	DNA	SEQ-NG	-	panel of 441 hereditary eye disease genes including 291 genes related to IRD	2	LOVD
0000382256	00381042	DNA	SEQ	blood	-	1	LOVD
0000382412	00381197	DNA	SEQ-NG	blood	-	1	Martin Zenker, Prof. Dr. med.
0000382432	00381217	DNA	SEQ-NG	blood	-	1	Martin Zenker, Prof. Dr. med.
0000382433	00381218	DNA	SEQ-NG	blood	-	1	Martin Zenker, Prof. Dr. med.
0000385210	00383985	DNA	arraySNP;SEQ	-	-	1	LOVD
0000385219	00383994	DNA	SEQ-NG-I	-	-	1	LOVD
0000385251	00384026	DNA	SEQ-NG-I	-	-	1	LOVD
0000385433	00384208	DNA	SEQ-NG-I	blood	108-gene panel targeted resequencing using MIPs library prep	1	LOVD
0000386292	00385063	DNA	SEQ-NG;SEQ	-	targeted next-generation sequencing/Sanger sequencing	1	LOVD
0000388303	00387077	DNA	SEQ-NG	blood	targeted sequencing	1	LOVD
0000388852	00387626	DNA	SEQ-NG	blood	whole exome sequencing	1	LOVD
0000389417	00388178	DNA	SEQ-NG	blood	targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing	2	LOVD
0000389424	00388185	DNA	SEQ-NG	blood	targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing	2	LOVD
0000392810	00391568	DNA	?	blood	NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families	1	LOVD
0000392811	00391569	DNA	?	blood	NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families	1	LOVD
0000392958	00391717	DNA	?	blood	224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien	2	LOVD
0000392959	00391718	DNA	?	blood	224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien	1	LOVD
0000392960	00391719	DNA	?	blood	224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien	2	LOVD
0000394710	00393462	DNA	SEQ-NG	-	hereditary eye disease enrichment panel (HEDEP)	2	LOVD
0000395087	00393839	DNA	SEQ-NG	-	hereditary eye disease enrichment panel (HEDEP)	2	LOVD
0000395253	00394005	DNA	SEQ-NG;PCR;SEQ	blood	WES	1	LOVD
0000395254	00394006	DNA	SEQ-NG;arraySNP;PCR;SEQ	blood	WES	1	LOVD
0000395882	00394635	DNA	SEQ	-	-	1	LOVD
0000409330	00408075	DNA	SEQ	-	-	2	LOVD
0000409331	00408076	DNA	SEQ	-	-	2	LOVD
0000409332	00408077	DNA	SEQ	-	-	1	LOVD
0000409333	00408078	DNA	SEQ	-	-	2	LOVD
0000409334	00408079	DNA	SEQ	-	-	1	LOVD
0000409336	00408081	DNA	arraySNP;SEQ	-	-	1	LOVD
0000409361	00408106	DNA	SEQ-NG;SEQ	-	panel of 286 syndromic and non-syndromic inherited retinal disease genes	1	LOVD
0000409362	00408107	DNA	SEQ-NG;SEQ	-	panel of 286 syndromic and non-syndromic inherited retinal disease genes	1	LOVD
0000409363	00408108	DNA	SEQ-NG	-	retrospective case study; clinical whole-exome sequencing	2	LOVD
0000409387	00408132	DNA	SEQ-NG	-	whole exome sequencing	1	LOVD
0000409388	00408133	DNA	SEQ-NG	-	targeted exome sequencing	2	LOVD
0000409389	00408134	DNA	SEQ-NG	-	whole exome sequencing	1	LOVD
0000409390	00408135	DNA	SEQ	-	-	1	LOVD
0000409391	00408136	DNA	SEQ	-	-	1	LOVD
0000409392	00408137	DNA	SEQ-NG	-	whole exome sequencing	1	LOVD
0000409393	00408138	DNA	SEQ-NG	-	whole exome sequencing	1	LOVD
0000409394	00408139	DNA	SEQ-NG	-	whole exome sequencing	2	LOVD
0000409395	00408140	DNA	SEQ-NG	-	targeted exome sequencing	2	LOVD
0000409396	00408141	DNA	SEQ-NG	-	targeted exome sequencing	2	LOVD
0000409397	00408142	DNA	SEQ-NG	-	whole exome sequencing	1	LOVD
0000409398	00408143	DNA	SEQ	-	-	1	LOVD
0000431101	00429688	DNA	SEQ	-	RP-LCA smMIPs sequencing	1	Daan Panneman
0000431377	00429964	DNA	SEQ	-	RP-LCA smMIPs sequencing	1	Daan Panneman
0000443154	00441668	DNA	SEQ-NG	blood	Published as WGS	2	Suzanne de Bruijn

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Global Variome shared LOVD

SPATA7 (spermatogenesis associated 7)