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     
+/? 3 c.412C>T r.(?) p.(R138*) Paternal (confirmed) - pathogenic g.179530463G>A g.179561328G>A - - NPHS2_000005 not in 80 control chromosomes; RNA reduced {PMID10742096:Boute 2000}, OMIM:var0002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - NPHS2 - PubMed: Boute 2000 4-generation family, 3 affecteds ? yes - (Europe) - - - - 3 Johan den Dunnen
+/? 3 c.412C>T r.(?) p.(R138*) Maternal (confirmed) - pathogenic g.179530463G>A g.179561328G>A - - NPHS2_000005 not in 80 control chromosomes; RNA reduced {PMID10742096:Boute 2000}, OMIM:var0002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - NPHS2 - PubMed: Boute 2000 4-generation family, 3 affecteds ? yes - (Europe) - - - - 3 Johan den Dunnen
?/? 3 c.412C>T r.(?) p.(R138*) Unknown - VUS g.179530463G>A g.179561328G>A - - NPHS2_000005 - - - rs74315343 Germline - - - - - DNA SEQ - - Healthy/Control - - - ? no - - - - - - 1 Johan den Dunnen
+/? 3 c.412C>T r.(?) p.(Arg138*) Parent #1 - pathogenic g.179530463G>A g.179561328G>A - - NPHS2_000005 - Caridi et al, 2001 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Caridi et al, 2001 (J Am Soc Nephrol) - - - Italy - - - - - 1 Olivier Gribouval
+/? 3 c.412C>T r.(?) p.(Arg138*) Both (homozygous) - pathogenic g.179530463G>A g.179561328G>A - - NPHS2_000005 - Frishberg et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Frishberg et al, 2002 (J Am Soc Nephrol) - - - - Arab;Jewish - - - - 1 Olivier Gribouval
+/? 3 c.412C>T r.(?) p.(Arg138*) Both (homozygous) - pathogenic g.179530463G>A g.179561328G>A - - NPHS2_000005 - Frishberg et al, 2002 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Frishberg et al, 2002 (J Am Soc Nephrol) - - - - Arab;Jewish - - - - 1 Olivier Gribouval
+/? 3 c.412C>T r.(?) p.(Arg138*) Both (homozygous) - pathogenic g.179530463G>A g.179561328G>A - - NPHS2_000005 - Frishberg 2003 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Frishberg 2003 (Pediatr Nephrol) - - - - Arab;Jewish - - - - 1 Olivier Gribouval
+/? 3 c.412C>T r.(?) p.(Arg138*) Parent #1 - pathogenic g.179530463G>A g.179561328G>A - - NPHS2_000005 - 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
+/? 3 c.412C>T r.(?) p.(Arg138*) Both (homozygous) - pathogenic g.179530463G>A g.179561328G>A - - NPHS2_000005 - 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
+/? 3 c.412C>T r.(?) p.(Arg138*) Parent #1 - pathogenic g.179530463G>A g.179561328G>A - - NPHS2_000005 - Bertelli et al, 2003 (Am J Kid Dis) - - Germline - - - - - DNA SEQ - - NPHS2 - Bertelli et al, 2003 (Am J Kid Dis) - - - Italy - - - - - 1 Olivier Gribouval
+/? 3 c.412C>T r.(?) p.(Arg138*) Both (homozygous) - pathogenic g.179530463G>A g.179561328G>A - - NPHS2_000005 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.412C>T r.(?) p.(Arg138*) Both (homozygous) - pathogenic g.179530463G>A g.179561328G>A - - NPHS2_000005 - Frishberg et al, 2005 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Frishberg et al, 2005 (J Am Soc Nephrol) - - - - Arab;Jewish - - - - 1 Olivier Gribouval
+/? 3 c.412C>T r.(?) p.(Arg138*) Parent #1 - pathogenic g.179530463G>A g.179561328G>A - - NPHS2_000005 - Caridi el al, 2007 (Nephrol Dial Transplant) - - Germline - - - - - DNA SEQ - - NPHS2 - Caridi el al, 2007 (Nephrol Dial Transplant) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.412C>T r.(?) p.(Arg138*) Parent #1 - pathogenic g.179530463G>A g.179561328G>A - - NPHS2_000005 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 3 c.412C>T r.(?) p.(Arg138*) Both (homozygous) - pathogenic g.179530463G>A g.179561328G>A - - NPHS2_000005 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 3 c.412C>T r.(?) p.(Arg138*) Both (homozygous) - pathogenic g.179530463G>A g.179561328G>A - - NPHS2_000005 - Becker-Cohen et al, 2007 (Am J Transplant) - - Germline - - - - - DNA SEQ - - NPHS2 - Becker-Cohen et al, 2007 (Am J Transplant) - - - - Arab;Jewish - - - - 1 Olivier Gribouval
+/? 3 c.412C>T r.(?) p.(Arg138*) Parent #1 - pathogenic g.179530463G>A g.179561328G>A - - NPHS2_000005 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.412C>T r.(?) p.(Arg138*) Both (homozygous) - pathogenic g.179530463G>A g.179561328G>A - - NPHS2_000005 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 3 c.412C>T r.(?) p.(Arg138*) Parent #1 - pathogenic g.179530463G>A g.179561328G>A - - NPHS2_000005 - 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
+/? 3 c.412C>T r.(?) p.(Arg138*) Parent #1 - pathogenic g.179530463G>A g.179561328G>A - - NPHS2_000005 - 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
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