Full data view for gene NPHS2

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

34 entries on 1 page. Showing entries 1 - 34.
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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     
+/? 5 c.538G>A r.(?) p.(V180M) Paternal (confirmed) - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 not in 80 control chromosomes {PMID10742096:Boute 2000}, OMIM:var0009 - - Germline - - - - - DNA SSCA, SEQ - - NPHS2 - {PMID10742096:Boute 2000} - ? yes - (Europe) - - - - 1 Johan den Dunnen
+/? 5 c.538G>A r.(?) p.(V180M) Parent #2 - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 not in 80 control chromosomes {PMID10742096:Boute 2000}, OMIM:var0009 - - Germline - - - - - DNA SSCA, SEQ - - NPHS2 - {PMID10742096:Boute 2000} - ? ? - (Europe) - - - - 1 Johan den Dunnen
+/? 5 c.538G>A r.(?) p.(V180M) Maternal (confirmed) - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 not in 80 control chromosomes {PMID10742096:Boute 2000}, OMIM:var0009 - - Germline - - - - - DNA SSCA, SEQ - - NPHS2 - {PMID10742096:Boute 2000} - ? yes - (Europe) - - - - 1 Johan den Dunnen
?/? 5 c.538G>A r.(?) p.(V180M) Unknown - VUS g.179526362C>T g.179557227C>T - - NPHS2_000008 - - - rs74315347 Germline - - - - - DNA SEQ - - Healthy/Control - - - ? no - - - - - - 1 Johan den Dunnen
+/? 5 c.538G>A r.(?) p.(Val180Met) Both (homozygous) - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Karle et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Karle et al, 2002 (J Am Soc Nephrol) - - - Germany - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Both (homozygous) - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Both (homozygous) - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Unknown - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Parent #1 - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Both (homozygous) - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Both (homozygous) - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Tonna et al, 2008 (BMC Nephrology) - - Germline - - - - - DNA SEQ - - NPHS2 - Tonna et al, 2008 (BMC Nephrology) - - - Lebanon white;? - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Both (homozygous) - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Both (homozygous) - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Both (homozygous) - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Ismaili et al, 2009 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ismaili et al, 2009 (Pediatr Nephrol) - - - Libya - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Both (homozygous) - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Ismaili et al, 2009 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ismaili et al, 2009 (Pediatr Nephrol) - - - Libya - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Both (homozygous) - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Ismaili et al, 2009 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ismaili et al, 2009 (Pediatr Nephrol) - - - Libya - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Both (homozygous) - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Ismaili et al, 2009 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ismaili et al, 2009 (Pediatr Nephrol) - - - Libya - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Parent #2 - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Carraro et al, 2001 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Carraro et al, 2001 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Parent #2 - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Carraro et al, 2001 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Carraro et al, 2001 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Parent #2 - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Caridi et al, 2001 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Caridi et al, 2001 (J Am Soc Nephrol) - - - Italy - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Parent #2 - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Caridi et al, 2001 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Caridi et al, 2001 (J Am Soc Nephrol) - - - Italy - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Parent #2 - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Caridi et al, 2003 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Caridi et al, 2003 (Clin J Am Soc Nephrol) - - - Italy - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Parent #2 - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Caridi et al, 2003 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Caridi et al, 2003 (Clin J Am Soc Nephrol) - - - Italy - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Parent #2 - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Bertelli et al, 2003 (Am J Kid Dis) - - Germline - - - - - DNA SEQ - - NPHS2 - Bertelli et al, 2003 (Am J Kid Dis) - - - Italy - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Parent #2 - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Parent #2 - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Caridi el al, 2007 (Nephrol Dial Transplant) - - Germline - - - - - DNA SEQ - - NPHS2 - Caridi el al, 2007 (Nephrol Dial Transplant) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Parent #2 - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Caridi el al, 2007 (Nephrol Dial Transplant) - - Germline - - - - - DNA SEQ - - NPHS2 - Caridi el al, 2007 (Nephrol Dial Transplant) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Parent #2 - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Parent #2 - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Caridi et al, 2009 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Caridi et al, 2009 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Parent #2 - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Caridi et al, 2009 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Caridi et al, 2009 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Parent #2 - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Machuca et al, 2010 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2010 (JASN) - - - France - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Parent #2 - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Mbarek et al, 2011 (Ped Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Mbarek et al, 2011 (Ped Nephrol) - - - Tunisia - - - - - 1 Olivier Gribouval
+/? 5 c.538G>A r.(?) p.(Val180Met) Parent #2 - pathogenic g.179526362C>T g.179557227C>T - - NPHS2_000008 - Mbarek et al, 2011 (Ped Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Mbarek et al, 2011 (Ped Nephrol) - - - Tunisia - - - - - 1 Olivier Gribouval
+/. - c.538G>A r.(?) p.(Val180Met) Unknown - pathogenic g.179526362C>T - NPHS2(NM_014625.3):c.538G>A (p.V180M) - NPHS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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