View 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
Associated with diseases NPHS, NPHS-1
Citation reference(s) Kestila et al. 1998
Refseq URL Genomic reference sequence
Curators (1) Juha Muilu
Total number of public variants reported 234
Unique public DNA variants reported 146
Individuals with public variants 77
Hidden variants 0
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nยบ 200754 - the GEN2PHEN project.

This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66).
Date created April 05, 2011
Date last updated May 09, 2017
Version NPHS1:170509

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
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)))
HGMD NPHS1
GeneCards NPHS1
GeneTests NPHS1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000050 19 nephrosis 1, congenital, Finnish type (nephrin) NM_004646.3 NP_004637.1 234


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