All transcript variants in gene NPHS1

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

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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+/+ 12 c.1481delC - r.(1481delc) p.(Ser494Cysfs*55) g.36337056delG g.35846154delG exon 12 (1481delC): frameshift and premature truncation of the protein, to 547 residues; Major Mennonite mutation; c.1491delC: p.S494fs547Xexon 12 (1481delC): frameshift and premature truncation of th - NPHS1_000066 Mennonite CNF founder mutation (North American/Mennonite) PubMed: Bolk et al. 1999, PubMed: Philippe et al. 2008 - - SUMMARY record yes - - - - Anne Polvi
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