All screenings for gene NPHS1

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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'

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.

90 entries on 1 page. Showing entries 1 - 90.

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How to query

Screening ID	Individual ID	Template	Technique	Tissue	Remarks	Variants found	Owner
0000000004	00000004	DNA	SEQ-NG	-	-	13	Global Variome, with Curator vacancy
0000000007	00000007	DNA	SEQ-NG	-	-	9	Global Variome, with Curator vacancy
0000000008	00000008	DNA	SEQ-NG	-	-	13	Global Variome, with Curator vacancy
0000000009	00000009	DNA	SEQ-NG	-	-	18	Global Variome, with Curator vacancy
0000000012	00000012	DNA	SEQ-NG	-	-	16	Global Variome, with Curator vacancy
0000000014	00000014	DNA	SEQ-NG	-	-	22	Global Variome, with Curator vacancy
0000000015	00000015	DNA	SEQ-NG	-	-	11	Global Variome, with Curator vacancy
0000000016	00000016	DNA	SEQ-NG	-	-	10	Global Variome, with Curator vacancy
0000000017	00000017	DNA	SEQ-NG	-	-	14	Global Variome, with Curator vacancy
0000000018	00000018	DNA	SEQ-NG	-	-	15	Global Variome, with Curator vacancy
0000000020	00000020	DNA	SEQ-NG	-	-	14	Global Variome, with Curator vacancy
0000000022	00000022	DNA	SEQ-NG	-	-	13	Global Variome, with Curator vacancy
0000000024	00000024	DNA	SEQ-NG	-	-	15	Global Variome, with Curator vacancy
0000000025	00000025	DNA	SEQ-NG	-	-	14	Global Variome, with Curator vacancy
0000000026	00000026	DNA	SEQ-NG	-	-	16	Global Variome, with Curator vacancy
0000000027	00000027	DNA	SEQ-NG	-	-	13	Global Variome, with Curator vacancy
0000000028	00000028	DNA	SEQ-NG	-	-	17	Global Variome, with Curator vacancy
0000000031	00000031	DNA	SEQ-NG	-	-	17	Global Variome, with Curator vacancy
0000000037	00000037	DNA	SEQ-NG	-	-	13	Global Variome, with Curator vacancy
0000000039	00000039	DNA	SEQ-NG	-	-	14	Global Variome, with Curator vacancy
0000000041	00000041	DNA	SEQ-NG	-	-	13	Global Variome, with Curator vacancy
0000000042	00000042	DNA	SEQ-NG	-	-	13	Global Variome, with Curator vacancy
0000000043	00000043	DNA	SEQ-NG	-	-	11	Global Variome, with Curator vacancy
0000000046	00000046	DNA	SEQ-NG	-	-	14	Global Variome, with Curator vacancy
0000000047	00000047	DNA	SEQ-NG	-	-	16	Global Variome, with Curator vacancy
0000000048	00000048	DNA	SEQ-NG	-	-	14	Global Variome, with Curator vacancy
0000000051	00000051	DNA	SEQ-NG	-	-	14	Global Variome, with Curator vacancy
0000000052	00000052	DNA	SEQ-NG	-	-	5	Global Variome, with Curator vacancy
0000000054	00000054	DNA	SEQ-NG	-	-	13	Global Variome, with Curator vacancy
0000000055	00000055	DNA	SEQ-NG	-	-	12	Global Variome, with Curator vacancy
0000000056	00000056	DNA	SEQ-NG	-	-	16	Global Variome, with Curator vacancy
0000000057	00000057	DNA	SEQ-NG	-	-	16	Global Variome, with Curator vacancy
0000000058	00000058	DNA	SEQ-NG	-	-	18	Global Variome, with Curator vacancy
0000000059	00000059	DNA	SEQ-NG	-	-	8	Global Variome, with Curator vacancy
0000000060	00000060	DNA	SEQ-NG	-	-	9	Global Variome, with Curator vacancy
0000000062	00000062	DNA	SEQ-NG	-	-	16	Global Variome, with Curator vacancy
0000000063	00000063	DNA	SEQ-NG	-	-	13	Global Variome, with Curator vacancy
0000000065	00000065	DNA	SEQ-NG	-	-	9	Global Variome, with Curator vacancy
0000000066	00000066	DNA	SEQ-NG	-	-	14	Global Variome, with Curator vacancy
0000000067	00000067	DNA	SEQ-NG	-	-	18	Global Variome, with Curator vacancy
0000000068	00000068	DNA	SEQ-NG	-	-	18	Global Variome, with Curator vacancy
0000000069	00000069	DNA	SEQ-NG	-	-	17	Global Variome, with Curator vacancy
0000000072	00000072	DNA	SEQ-NG	-	-	17	Global Variome, with Curator vacancy
0000000074	00000074	DNA	SEQ-NG	-	-	9	Global Variome, with Curator vacancy
0000000076	00000076	DNA	SEQ-NG	-	-	18	Global Variome, with Curator vacancy
0000000077	00000077	DNA	SEQ-NG	-	-	10	Global Variome, with Curator vacancy
0000000078	00000078	DNA	SEQ-NG	-	-	12	Global Variome, with Curator vacancy
0000000079	00000079	DNA	SEQ-NG	-	-	5	Global Variome, with Curator vacancy
0000000080	00000080	DNA	SEQ-NG	-	-	7	Global Variome, with Curator vacancy
0000000081	00000081	DNA	SEQ-NG	-	-	11	Global Variome, with Curator vacancy
0000000083	00000083	DNA	SEQ-NG	-	-	9	Global Variome, with Curator vacancy
0000000084	00000084	DNA	SEQ-NG	-	-	11	Global Variome, with Curator vacancy
0000000088	00000088	DNA	SEQ-NG	-	-	14	Global Variome, with Curator vacancy
0000000090	00000090	DNA	SEQ-NG	-	-	8	Global Variome, with Curator vacancy
0000000092	00000092	DNA	SEQ-NG	-	-	8	Global Variome, with Curator vacancy
0000000094	00000094	DNA	SEQ-NG	-	-	14	Global Variome, with Curator vacancy
0000000095	00000095	DNA	SEQ-NG	-	-	7	Global Variome, with Curator vacancy
0000000100	00000100	DNA	SEQ-NG	-	-	12	Global Variome, with Curator vacancy
0000000101	00000101	DNA	SEQ-NG	-	-	7	Global Variome, with Curator vacancy
0000000107	00000107	DNA	SEQ-NG	-	-	15	Global Variome, with Curator vacancy
0000017889	00017906	DNA	DGGE;SEQ;SEQ-NG-I	-	-	2	Elisabet Ars Criach
0000017890	00017907	DNA	SEQ;SEQ-NG-I	-	-	1	Elisabet Ars Criach
0000018436	00018452	DNA	SEQ-NG;SEQ-NG-I	-	-	3	Elisabet Ars Criach
0000018829	00018845	DNA	SEQ;SEQ-NG-I	-	-	3	Elisabet Ars Criach
0000019394	00019409	DNA	SEQ;SEQ-NG-I	-	-	3	Elisabet Ars Criach
0000019396	00019411	DNA	SEQ;SEQ-NG-I	-	-	3	Elisabet Ars Criach
0000019398	00019413	DNA;RNA	SEQ;SEQ-NG-I	-	-	1	Elisabet Ars Criach
0000019909	00019917	DNA	SEQ-NG-I	-	-	1	Elisabet Ars Criach
0000032407	00032340	DNA	SEQ;SEQ-NG	-	-	4	Johan den Dunnen
0000038882	00038646	DNA	SEQ	whole blood, lymphocytes	-	1	Irene (Eirini) Fylaktou
0000050540	00050595	DNA	SEQ;SEQ-NG-I	-	-	2	Johan den Dunnen
0000059209	00054892	DNA	SEQ-NG-I	-	-	2	Elena Semina
0000227291	00226216	DNA;RNA	RT-PCR;SEQ	-	-	3	Johan den Dunnen
0000302170	00301048	DNA	SEQ-NG	blood	-	2	Matthias Braunisch
0000307343	00306210	DNA	SEQ-NG	-	-	1	Sha Hong
0000309903	00308758	DNA	SEQ;SEQ-NG	-	105 WGS/200 WES	1	Global Variome, with Curator vacancy
0000309904	00308759	DNA	SEQ;SEQ-NG	-	105 WGS/200 WES	1	Global Variome, with Curator vacancy
0000309905	00308760	DNA	SEQ;SEQ-NG	-	105 WGS/200 WES	1	Global Variome, with Curator vacancy
0000309906	00308761	DNA	SEQ;SEQ-NG	-	105 WGS/200 WES	1	Global Variome, with Curator vacancy
0000316116	00314940	DNA	SEQ	-	panel LAMB2, WT1, NPHS1, NPHS2	1	Aiysha Abid
0000316130	00314954	DNA	SEQ	-	panel LAMB2, WT1, NPHS1, NPHS2	1	Aiysha Abid
0000381441	00380226	DNA	SEQ-NG	-	-	1	Kar-Hui Ng
0000381631	00380417	DNA	SEQ-NG	-	-	1	Kar-Hui Ng
0000381632	00380418	DNA	SEQ-NG	-	-	1	Kar-Hui Ng
0000381633	00380419	DNA	SEQ-NG	-	-	1	Kar-Hui Ng
0000381634	00380420	DNA	SEQ-NG	-	-	1	Kar-Hui Ng
0000381635	00380421	DNA	SEQ-NG	-	-	2	Kar-Hui Ng
0000381636	00380422	DNA	SEQ-NG	-	-	2	Kar-Hui Ng
0000414678	00413401	DNA	SEQ-NG	-	-	1	Sulman Basit
0000450139	00448549	DNA	SEQ-NG	Blood	-	1	Mohamed A. Elmonem

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How to query

Global Variome shared LOVD

NPHS1 (nephrosis 1, congenital, Finnish type (nephrin))