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     
+/+ 04 c.516delC - r.(516delc) p.(Ile173Phefs*3) g.36341873delG g.35850971delG c.516delC: p.T712fs175X - NPHS1_000028 2 CNF patients (com-het) PubMed: Philippe et al. 2008 - - SUMMARY record yes - - - - Anne Polvi
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