The NPHS1 gene homepage

General information
Gene symbol NPHS1
Gene name nephrosis 1, congenital, Finnish type (nephrin)
Chromosome 19
Chromosomal band q12-q13.1
Imprinted Unknown
Genomic reference NG_013356.2
Transcript reference NM_004646.3
Exon/intron information NM_004646.3 exon/intron table
Associated with diseases NPHS, NPHS-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 343
Unique public DNA variants reported 201
Individuals with public variants 284
Hidden variants 12
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.

This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015.
Date created April 05, 2011
Date last updated December 22, 2020
Version NPHS1:201222

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_004646.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Orphanet
Finnish Disease Database (FinDis)
HGNC 7908
Entrez Gene 4868
PubMed articles NPHS1
OMIM - Gene 602716
OMIM - Diseases NPHS-1 (nephrotic syndrome, type 1 (NPHS-1, Finnish congenital nephrosis (CNF)))
GeneCards NPHS1
GeneTests NPHS1
Orphanet NPHS1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000050 19 nephrosis 1, congenital, Finnish type (nephrin) NM_004646.3 NP_004637.1 343

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.