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     
+?/+? 13 c.1672C>T - r.(1672c>u) p.(Arg558Cys) g.36336656G>A g.35845754G>A 1672C>T: R558C; c.C1672T: p.R558C - NPHS1_000069 1 Turkish twin pair (hom) with CNF and CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001, PubMed: Schoeb et al. 2010 - - SUMMARY record yes 0/93 CON - - - Anne Polvi
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