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     
+/+ 02 c.121_122delCT - r.(121_122delcu) p.(Leu41Aspfs*50) g.36342511_36342512delAG g.35851609_35851610delAG Deletion of nucleotides 121-122 (CT) in exon 2; nt121(del2): frameshift, truncated 90-residue protein. Finmajor mutation. - NPHS1_000014 Finnish Major CNF mutation (Finmajor): >44 Finnish CNF patients (most hom), 1 North American CNF patient (com-het) and 2 Swedish CNF families (1 hom and 1 com-het) PubMed: Kestila et al. 1998,PubMed: Lenkkeri at al. 1999 - - SUMMARY record yes 1/83 FIN CON (h - - - Anne Polvi
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