Unique variants in the NPHS1 gene

Information The variants shown are described using the NM_004646.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/+ 1 02 c.121_122del r.(?) p.(Leu41Aspfs*50) - pathogenic g.36342511_36342512del g.35851609_35851610del 1 more item - NPHS1_000014 1 more item PubMed: Kestila et al. 1998,PubMed: Lenkkeri at al. 1999 - - SUMMARY record yes 1/83 FIN CON (h - - - Anne Polvi
+?/+? 1 02 c.191G>C r.(191g>c) p.(Trp64Ser) - likely pathogenic g.36342442C>G g.35851540C>G exon 2 nt191(G>C): Trp64>Ser - NPHS1_000016 1 Finnish CNF family (com-het) PubMed: Lenkkeri at al. 1999 - - SUMMARY record yes 0/30 CON - - - Anne Polvi
+?/+? 1 10 c.1223G>A r.(1223g>a) p.(Arg408Gln) - likely pathogenic g.36339247C>T g.35848345C>T exon 10 nt1223(G>A): Arg408>Gln; c.G1223A: c.R408Q - NPHS1_000003 1 more item PubMed: Lenkkeri at al. 1999, PubMed: Schoeb et al. 2010 - rs33950747 SUMMARY record yes 4/30 CON (het) - - - Anne Polvi
+?/+? 1 11 c.1394G>A r.(1394g>a) p.(Cys465Tyr) - likely pathogenic g.36338989C>T g.35848087C>T exon 11 nt1384(G>A): Cys465>Tyr - NPHS1_000065 1 Finnish CNF family (com-het) PubMed: Lenkkeri at al. 1999 - - SUMMARY record yes 0/30 CON - - - Anne Polvi
+?/+? 1 17 c.2227C>T r.(2227c>u) p.(Arg743Cys) - likely pathogenic g.36334481G>A g.35843579G>A exon 17 nt2227(C>T): Arg743>Cys - NPHS1_000090 1 more item PubMed: Lenkkeri at al. 1999, PubMed: Koziell et al. 2002, PubMed: Kari et al. 2014 - - SUMMARY record yes 0/30 CON - - - Anne Polvi
+/+ 1 26 c.3325C>T r.(3325c>u) p.(Arg1109*) - pathogenic g.36322260G>A g.35831358G>A 1 more item - NPHS1_000113 1 more item 1 more item - rs137853042 SUMMARY record yes 0/83 FIN CON - - - Anne Polvi
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