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     
+/+ 02 c.248dupA - r.(248dupa) p.(Tyr83*) g.36342385dup g.35851483dupT c.248insA: frameshift resulting in a premature termination of translation and truncated protein of 83 amino acids - NPHS1_000017 1 Italian CNF family PubMed: Gigante et al. 2005 - - SUMMARY record yes 0/50 CON - - - Anne Polvi
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