Full data view for gene NPHS2

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

26 entries on 1 page. Showing entries 1 - 26.
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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.868G>A r.(?) p.(Val290Met) Parent #1 - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - 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.868G>A r.(?) p.(Val290Met) Both (homozygous) - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - Hinkes et al, 2007 (Pediatrics) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2007 (Pediatrics) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 7 c.868G>A r.(?) p.(Val290Met) Unknown - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 7 c.868G>A r.(?) p.(Val290Met) Unknown - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.868G>A r.(?) p.(Val290Met) Parent #1 - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.868G>A r.(?) p.(Val290Met) Both (homozygous) - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.868G>A r.(?) p.(Val290Met) Both (homozygous) - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - 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
+/? 7 c.868G>A r.(?) p.(Val290Met) Both (homozygous) - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - Reiterova et al, 2012 (Folia Biologica) - - Germline - - - - - DNA SEQ - - NPHS2 - Reiterova et al, 2012 (Folia Biologica) - - - Czech Republic - - - - - 1 Olivier Gribouval
+/? 7 c.868G>A r.(?) p.(Val290Met) Unknown - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - Kerti et al, 2013 (Ped Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Kerti et al, 2013 (Ped Nephrol) - - - Hungary - - - - - 1 Olivier Gribouval
+/? 7 c.868G>A r.(?) p.(Val290Met) Unknown - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - Kerti et al, 2013 (Ped Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Kerti et al, 2013 (Ped Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 7 c.868G>A r.(?) p.(Val290Met) Both (homozygous) - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - Kerti et al, 2013 (Ped Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Kerti et al, 2013 (Ped Nephrol) - - - Hungary - - - - - 1 Olivier Gribouval
+/? 7 c.868G>A r.(?) p.(Val290Met) Parent #2 - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - 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.868G>A r.(?) p.(Val290Met) Parent #2 - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - 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.868G>A r.(?) p.(Val290Met) Parent #2 - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - 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.868G>A r.(?) p.(Val290Met) Parent #2 - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.868G>A r.(?) p.(Val290Met) Parent #2 - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.868G>A r.(?) p.(Val290Met) Parent #2 - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.868G>A r.(?) p.(Val290Met) Parent #2 - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 7 c.868G>A r.(?) p.(Val290Met) Parent #2 - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - Skalova et al, 2010 (Acta Medica) - - Germline - - - - - DNA SEQ - - NPHS2 - Skalova et al, 2010 (Acta Medica) - - - Czech Republic - - - - - 1 Olivier Gribouval
+/? 7 c.868G>A r.(?) p.(Val290Met) Parent #2 - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - 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
+/? 7 c.868G>A r.(?) p.(Val290Met) Parent #2 - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - Skalova 2012 (ACTA MEDICA) - - Germline - - - - - DNA SEQ - - NPHS2 - Skalova 2012 (ACTA MEDICA) - - - Czech Republic - - - - - 1 Olivier Gribouval
+/? 7 c.868G>A r.(?) p.(Val290Met) Parent #2 - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - Kerti et al, 2013 (Ped Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Kerti et al, 2013 (Ped Nephrol) - - - Germany - - - - - 1 Olivier Gribouval
+/? 7 c.868G>A r.(?) p.(Val290Met) Parent #2 - pathogenic g.179521743C>T g.179552608C>T - - NPHS2_000049 - Kerti et al, 2013 (Ped Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Kerti et al, 2013 (Ped Nephrol) - - - Hungary - - - - - 1 Olivier Gribouval
+?/. - c.868G>A r.(?) p.(Val290Met) Unknown - likely pathogenic g.179521743C>T g.179552608C>T NPHS2(NM_014625.3):c.868G>A (p.V290M), NPHS2(NM_014625.4):c.868G>A (p.V290M) - NPHS2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.868G>A r.(?) p.(Val290Met) Unknown - likely pathogenic g.179521743C>T g.179552608C>T NPHS2(NM_014625.3):c.868G>A (p.V290M), NPHS2(NM_014625.4):c.868G>A (p.V290M) - NPHS2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.868G>A r.(?) p.(Val290Met) Unknown - pathogenic g.179521743C>T - NPHS2(NM_014625.3):c.868G>A (p.V290M), NPHS2(NM_014625.4):c.868G>A (p.V290M) - NPHS2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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