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
- = not applicable
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)
ASMM RTQ-PCR = allele-specific methylated multiplex real-time quantitative PCR
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CAGE = Cap analysis gene expression
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 = microscope (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
MSREs = Methylation sensitive restriction enzymes
MS-SeQMA = Methylation-specific Sequence-based quantitative methylation analysis
Ms-SNuPE = Methylation-sensitive single-nucleotide primer extension
MyoD = myoD induced differentiation
Northern = Northern blotting
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
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)
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
QMPSF = Quantitative Multiplex PCR of Short Fluorescent fragments
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
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
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

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.

75 entries on 1 page. Showing entries 1 - 75.

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Screening ID	Individual ID	Template	Technique	Tissue	Remarks	Variants found	Owner
0000000001	00000001	DNA	SEQ-NG	-	-	34	LOVD-team, but with Curator vacancy
0000000003	00000003	DNA	SEQ-NG	-	-	15	LOVD-team, but with Curator vacancy
0000000004	00000004	DNA	SEQ-NG	-	-	13	LOVD-team, but with Curator vacancy
0000000007	00000007	DNA	SEQ-NG	-	-	9	LOVD-team, but with Curator vacancy
0000000008	00000008	DNA	SEQ-NG	-	-	12	LOVD-team, but with Curator vacancy
0000000009	00000009	DNA	SEQ-NG	-	-	18	LOVD-team, but with Curator vacancy
0000000012	00000012	DNA	SEQ-NG	-	-	16	LOVD-team, but with Curator vacancy
0000000014	00000014	DNA	SEQ-NG	-	-	22	LOVD-team, but with Curator vacancy
0000000015	00000015	DNA	SEQ-NG	-	-	11	LOVD-team, but with Curator vacancy
0000000016	00000016	DNA	SEQ-NG	-	-	10	LOVD-team, but with Curator vacancy
0000000017	00000017	DNA	SEQ-NG	-	-	15	LOVD-team, but with Curator vacancy
0000000018	00000018	DNA	SEQ-NG	-	-	15	LOVD-team, but with Curator vacancy
0000000020	00000020	DNA	SEQ-NG	-	-	14	LOVD-team, but with Curator vacancy
0000000022	00000022	DNA	SEQ-NG	-	-	13	LOVD-team, but with Curator vacancy
0000000024	00000024	DNA	SEQ-NG	-	-	15	LOVD-team, but with Curator vacancy
0000000025	00000025	DNA	SEQ-NG	-	-	15	LOVD-team, but with Curator vacancy
0000000026	00000026	DNA	SEQ-NG	-	-	16	LOVD-team, but with Curator vacancy
0000000027	00000027	DNA	SEQ-NG	-	-	13	LOVD-team, but with Curator vacancy
0000000028	00000028	DNA	SEQ-NG	-	-	17	LOVD-team, but with Curator vacancy
0000000031	00000031	DNA	SEQ-NG	-	-	17	LOVD-team, but with Curator vacancy
0000000037	00000037	DNA	SEQ-NG	-	-	13	LOVD-team, but with Curator vacancy
0000000039	00000039	DNA	SEQ-NG	-	-	14	LOVD-team, but with Curator vacancy
0000000041	00000041	DNA	SEQ-NG	-	-	13	LOVD-team, but with Curator vacancy
0000000042	00000042	DNA	SEQ-NG	-	-	13	LOVD-team, but with Curator vacancy
0000000043	00000043	DNA	SEQ-NG	-	-	11	LOVD-team, but with Curator vacancy
0000000046	00000046	DNA	SEQ-NG	-	-	14	LOVD-team, but with Curator vacancy
0000000047	00000047	DNA	SEQ-NG	-	-	16	LOVD-team, but with Curator vacancy
0000000048	00000048	DNA	SEQ-NG	-	-	14	LOVD-team, but with Curator vacancy
0000000051	00000051	DNA	SEQ-NG	-	-	14	LOVD-team, but with Curator vacancy
0000000052	00000052	DNA	SEQ-NG	-	-	5	LOVD-team, but with Curator vacancy
0000000054	00000054	DNA	SEQ-NG	-	-	13	LOVD-team, but with Curator vacancy
0000000055	00000055	DNA	SEQ-NG	-	-	12	LOVD-team, but with Curator vacancy
0000000056	00000056	DNA	SEQ-NG	-	-	16	LOVD-team, but with Curator vacancy
0000000057	00000057	DNA	SEQ-NG	-	-	16	LOVD-team, but with Curator vacancy
0000000058	00000058	DNA	SEQ-NG	-	-	18	LOVD-team, but with Curator vacancy
0000000059	00000059	DNA	SEQ-NG	-	-	8	LOVD-team, but with Curator vacancy
0000000060	00000060	DNA	SEQ-NG	-	-	9	LOVD-team, but with Curator vacancy
0000000062	00000062	DNA	SEQ-NG	-	-	16	LOVD-team, but with Curator vacancy
0000000063	00000063	DNA	SEQ-NG	-	-	13	LOVD-team, but with Curator vacancy
0000000065	00000065	DNA	SEQ-NG	-	-	9	LOVD-team, but with Curator vacancy
0000000066	00000066	DNA	SEQ-NG	-	-	14	LOVD-team, but with Curator vacancy
0000000067	00000067	DNA	SEQ-NG	-	-	18	LOVD-team, but with Curator vacancy
0000000068	00000068	DNA	SEQ-NG	-	-	18	LOVD-team, but with Curator vacancy
0000000069	00000069	DNA	SEQ-NG	-	-	17	LOVD-team, but with Curator vacancy
0000000072	00000072	DNA	SEQ-NG	-	-	17	LOVD-team, but with Curator vacancy
0000000074	00000074	DNA	SEQ-NG	-	-	9	LOVD-team, but with Curator vacancy
0000000076	00000076	DNA	SEQ-NG	-	-	17	LOVD-team, but with Curator vacancy
0000000077	00000077	DNA	SEQ-NG	-	-	10	LOVD-team, but with Curator vacancy
0000000078	00000078	DNA	SEQ-NG	-	-	12	LOVD-team, but with Curator vacancy
0000000079	00000079	DNA	SEQ-NG	-	-	5	LOVD-team, but with Curator vacancy
0000000080	00000080	DNA	SEQ-NG	-	-	7	LOVD-team, but with Curator vacancy
0000000081	00000081	DNA	SEQ-NG	-	-	11	LOVD-team, but with Curator vacancy
0000000083	00000083	DNA	SEQ-NG	-	-	9	LOVD-team, but with Curator vacancy
0000000084	00000084	DNA	SEQ-NG	-	-	11	LOVD-team, but with Curator vacancy
0000000088	00000088	DNA	SEQ-NG	-	-	14	LOVD-team, but with Curator vacancy
0000000090	00000090	DNA	SEQ-NG	-	-	8	LOVD-team, but with Curator vacancy
0000000092	00000092	DNA	SEQ-NG	-	-	8	LOVD-team, but with Curator vacancy
0000000094	00000094	DNA	SEQ-NG	-	-	14	LOVD-team, but with Curator vacancy
0000000095	00000095	DNA	SEQ-NG	-	-	7	LOVD-team, but with Curator vacancy
0000000100	00000100	DNA	SEQ-NG	-	-	12	LOVD-team, but with Curator vacancy
0000000101	00000101	DNA	SEQ-NG	-	-	6	LOVD-team, but with Curator vacancy
0000000107	00000107	DNA	SEQ-NG	-	-	14	LOVD-team, but 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

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Global Variome shared LOVD

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

All screenings for gene NPHS1

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