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     
+?/+? i14-15 c.1758-15_1778del - r.? p.? g.36336422_36336457del g.35845520_35845555del c.1759-15_1778del: Splice error - NPHS1_000121 1 CNF patient of unknown origin (hom) PubMed: Schoeb et al. 2010 - - SUMMARY record yes 0/93 CON - 0 - Anne Polvi
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