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) |
GVsharedLOVD, with Curator vacancy |
| Total number of public variants reported |
333 |
| Unique public DNA variants reported |
195 |
| Individuals with public variants |
277 |
| 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 nº 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 |
June 24, 2020 |
| Version |
NPHS1:200624 |
Active transcripts
| Copyright & disclaimer |
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2011-2020. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.
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. |
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