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.1555C>T - r.(1555c>u) p.(Pro519Ser) g.36336982G>A g.35846080G>A Ex12, c.1555C>T(h) = P519S - NPHS1_000067 1 European CNF patient (com-het) PubMed: Heeringa et al. 2008 - - SUMMARY record yes - - - - Anne Polvi
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