All transcript variants in gene NPHS1

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

1 entry on 1 page. Showing entry 1.
Legend  

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     
+/+ 09 c.1134G>A - r.(1134g>a) p.(Trp378*) g.36339575C>T g.35848673C>T c.G1134A: p.W378X - NPHS1_000052 1 Arabic CNF family (hom) PubMed: Schoeb et al. 2010 - - SUMMARY record yes 0/93 CON - - - Anne Polvi
Legend