Full data view for gene NPHS2

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

27 entries on 1 page. Showing entries 1 - 27.
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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     
+/? 4 c.503G>A r.(?) p.(Arg168His) Unknown - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Both (homozygous) - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Both (homozygous) - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Ozcakar et al, 2006 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ozcakar et al, 2006 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Both (homozygous) - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Both (homozygous) - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Both (homozygous) - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Both (homozygous) - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Both (homozygous) - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Sonmez et al, 2008 (Ped Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Sonmez et al, 2008 (Ped Int) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Both (homozygous) - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Sonmez et al, 2008 (Ped Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Sonmez et al, 2008 (Ped Int) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Both (homozygous) - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Sonmez et al, 2008 (Ped Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Sonmez et al, 2008 (Ped Int) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Both (homozygous) - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Megremis et al, 2009 (Genet Test Mol Biomar) - - Germline - - - - - DNA SEQ - - NPHS2 - Megremis et al, 2009 (Genet Test Mol Biomar) - - - Greece - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Both (homozygous) - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Machuca et al, 2010 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2010 (JASN) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Both (homozygous) - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Buscher et al, 2010 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Buscher et al, 2010 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Both (homozygous) - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Sonbol et al, 2012 (Nefrologia) - - Germline - - - - - DNA SEQ - - NPHS2 - Sonbol et al, 2012 (Nefrologia) - - - Iran - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Both (homozygous) - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Sonbol et al, 2012 (Nefrologia) - - Germline - - - - - DNA SEQ - - NPHS2 - Sonbol et al, 2012 (Nefrologia) - - - Iran - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Parent #1 - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Parent #2 - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Yu et al, 2004 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Yu et al, 2004 (Pediatr Nephrol) - - - China - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Parent #2 - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Yu et al, 2004 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Yu et al, 2004 (Pediatr Nephrol) - - - China - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Parent #2 - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Parent #2 - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Parent #2 - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Parent #2 - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Parent #2 - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Hinkes et al, 2007 (Pediatrics) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2007 (Pediatrics) - - - Germany - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Parent #2 - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Hinkes et al, 2007 (Pediatrics) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2007 (Pediatrics) - - - Germany - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Parent #2 - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Parent #2 - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 4 c.503G>A r.(?) p.(Arg168His) Parent #2 - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
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