All transcript variants in gene NPHS1

Information The variants shown are described using the NM_004646.3 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend  

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     
+?/+? 11 c.1337T>A - r.(1337u>a) p.(Ile446Asn) g.36339046A>T g.35848144A>T nt1337 (T→A): I446N - NPHS1_000063 1 English/Indian CNF patient (com-het) PubMed: Koziell et al. 2002 - - SUMMARY record yes - - - - Anne Polvi
Legend