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.313G>A - r.(313g>a) p.(Asp105Asn) g.36342248C>T g.35851346C>T 313G>A: D105N - NPHS1_000019 2 Japanese CNF patients (com-het) PubMed: Sako et al. 2005 - - SUMMARY record yes 0/200 JAP CON - - - Anne Polvi
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