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     
+?/+? 03 c.319G>A - r.(319g>a) p.(Ala107Thr) g.36342242C>T g.35851340C>T c.319G>A: p.A107T - NPHS1_000020 1 CNF patient (com-het) PubMed: Philippe et al. 2008 - - SUMMARY record yes 0/94 CON - - - Anne Polvi
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