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.808G>T - r.(808g>u) p.(Gly270Cys) g.36340170C>A g.35849268C>A exon 7 nt808(G>T): Gly270>Cys - NPHS1_000041 1 English CNF family (com-het) and 1 English CNF patient (com-het) PubMed: Lenkkeri at al. 1999, PubMed: Koziell et al. 2002 - - SUMMARY record yes 0/30 CON - - - Anne Polvi
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