Full data view for gene NPHS2

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

20 entries on 1 page. Showing entries 1 - 20.
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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     
+/? 7 c.871C>T r.(?) p.(R291W) Paternal (confirmed) - pathogenic g.179521740G>A g.179552605G>A - - NPHS2_000010 not in 80 control chromosomes {PMID10742096:Boute 2000}, OMIM:var0010 - - Germline - - - - - DNA SSCA, SEQ - - NPHS2 - {PMID10742096:Boute 2000} - ? ? - (Europe) - - - - 1 Johan den Dunnen
?/? 7 c.871C>T r.(?) p.(R291W) Unknown - VUS g.179521740G>A g.179552605G>A - - NPHS2_000010 - - - rs74315348 Germline - - - - - DNA SEQ - - Healthy/Control - - - ? no - - - - - - 1 Johan den Dunnen
+/? 7 c.871C>T r.(?) p.(Arg291Trp) Unknown - pathogenic g.179521740G>A g.179552605G>A - - NPHS2_000010 - 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.871C>T r.(?) p.(Arg291Trp) Parent #2 - pathogenic g.179521740G>A g.179552605G>A - - NPHS2_000010 - Tsukaguchi et al, 2002 (JCI) - - Germline - - - - - DNA SEQ - - NPHS2 - Tsukaguchi et al, 2002 (JCI) - - - Brazil - - - - - 1 Olivier Gribouval
+/? 7 c.871C>T r.(?) p.(Arg291Trp) Parent #2 - pathogenic g.179521740G>A g.179552605G>A - - NPHS2_000010 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Germany - - - - - 1 Olivier Gribouval
+/? 7 c.871C>T r.(?) p.(Arg291Trp) Parent #2 - pathogenic g.179521740G>A g.179552605G>A - - NPHS2_000010 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Germany - - - - - 1 Olivier Gribouval
+/? 7 c.871C>T r.(?) p.(Arg291Trp) Parent #2 - pathogenic g.179521740G>A g.179552605G>A - - NPHS2_000010 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.871C>T r.(?) p.(Arg291Trp) Parent #2 - pathogenic g.179521740G>A g.179552605G>A - - NPHS2_000010 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.871C>T r.(?) p.(Arg291Trp) Parent #2 - pathogenic g.179521740G>A g.179552605G>A - - NPHS2_000010 - 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.871C>T r.(?) p.(Arg291Trp) Parent #2 - pathogenic g.179521740G>A g.179552605G>A - - NPHS2_000010 - 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.871C>T r.(?) p.(Arg291Trp) Parent #2 - pathogenic g.179521740G>A g.179552605G>A - - NPHS2_000010 - 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.871C>T r.(?) p.(Arg291Trp) Parent #2 - pathogenic g.179521740G>A g.179552605G>A - - NPHS2_000010 - Monteiro et al, 2006 (J Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Monteiro et al, 2006 (J Nephrol) - - - Brazil - - - - - 1 Olivier Gribouval
+/? 7 c.871C>T r.(?) p.(Arg291Trp) Parent #2 - pathogenic g.179521740G>A g.179552605G>A - - NPHS2_000010 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.871C>T r.(?) p.(Arg291Trp) Parent #2 - pathogenic g.179521740G>A g.179552605G>A - - NPHS2_000010 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.871C>T r.(?) p.(Arg291Trp) Parent #2 - pathogenic g.179521740G>A g.179552605G>A - - NPHS2_000010 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.871C>T r.(?) p.(Arg291Trp) Parent #2 - pathogenic g.179521740G>A g.179552605G>A - - NPHS2_000010 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.871C>T r.(?) p.(Arg291Trp) Parent #2 - pathogenic g.179521740G>A g.179552605G>A - - NPHS2_000010 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - North Africa - - - - 1 Olivier Gribouval
+/? 7 c.871C>T r.(?) p.(Arg291Trp) Parent #2 - pathogenic g.179521740G>A g.179552605G>A - - NPHS2_000010 - Machuca et al, 2009 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2009 (Kid Int) - - - - North Africa - - - - 1 Olivier Gribouval
+/? 7 c.871C>T r.(?) p.(Arg291Trp) Parent #2 - pathogenic g.179521740G>A g.179552605G>A - - NPHS2_000010 - 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
+/. - c.871C>T r.(?) p.(Arg291Trp) Unknown - pathogenic g.179521740G>A g.179552605G>A NPHS2(NM_014625.3):c.871C>T (p.R291W) - NPHS2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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