Full data view for gene NPHS2

Information The variants shown are described using the NM_014625.2 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/? 7 c.851C>T r.(?) p.(Ala284Val) Both (homozygous) - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Tsukaguchi et al, 2002 (JCI) - - Germline - - - - - DNA SEQ - - NPHS2 - Tsukaguchi et al, 2002 (JCI) - - - Dominican Republic - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Both (homozygous) - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Switzerland - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Both (homozygous) - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Both (homozygous) - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Both (homozygous) - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Jungraithmayr et al, 2011 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Jungraithmayr et al, 2011 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Both (homozygous) - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Mc Carthy et al, 2013 (CJASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Mc Carthy et al, 2013 (CJASN) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Poland - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Poland - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Austria - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Austria - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Drozdz et al, 2006 (Przegl Lek) - - Germline - - - - - DNA SEQ - - NPHS2 - Drozdz et al, 2006 (Przegl Lek) - - - Poland - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Drozdz et al, 2006 (Przegl Lek) - - Germline - - - - - DNA SEQ - - NPHS2 - Drozdz et al, 2006 (Przegl Lek) - - - Poland - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Tonna et al, 2008 (BMC Nephrology) - - Germline - - - - - DNA SEQ - - NPHS2 - Tonna et al, 2008 (BMC Nephrology) - - - - white - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Tonna et al, 2008 (BMC Nephrology) - - Germline - - - - - DNA SEQ - - NPHS2 - Tonna et al, 2008 (BMC Nephrology) - - - Spain - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Tonna et al, 2008 (BMC Nephrology) - - Germline - - - - - DNA SEQ - - NPHS2 - Tonna et al, 2008 (BMC Nephrology) - - - Spain - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - South America - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - European - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - European - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Machuca et al, 2010 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al 2010 (JASN) - - - France - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Chernin et al, 2010 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Chernin et al, 2010 (Pediatr Nephrol) - - - Spain - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - Spain - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - Spain - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - Spain - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - Spain - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - Spain - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - Spain - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.851C>T r.(?) p.(Ala284Val) Parent #2 - pathogenic g.179521760G>A g.179552625G>A - - NPHS2_000053 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Bouchireb et al, 2013 (Hum Mutat) - - - Portugal - - - - - 1 Olivier Gribouval
+?/. - c.851C>T r.(?) p.(Ala284Val) Unknown - likely pathogenic g.179521760G>A - - - NPHS2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.