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     
+/+ - c.106delG - r.(?) p.(Ala36Profs*6) g.36342527delC g.35851625delC - - NPHS1_000145 1 African patient (com-het) with probable CNF PubMed: Sabi et al. 2013 - - SUMMARY record yes - - 0 - Anne Polvi
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