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     
+/+ 07 c.736G>T - r.(736g>u) p.(Glu246*) g.36340242C>A g.35849340C>A 736G>T: E246X - NPHS1_000038 3 Japanese CNF families (1 hom and 2 com-het)) PubMed: Sako et al. 2005, PubMed: Aya et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
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