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     
+?/+? i04 c.526+5G>C - r.spl? p.? g.36341858C>G g.35850956C>G intron 4, nt526+5(G>C): Splice-site mutation - NPHS1_000030 1 Swedish CNF family (com-het) PubMed: Lenkkeri at al. 1999 - - SUMMARY record yes 0/30 CON - - - Anne Polvi
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