All transcript variants in gene NPHS1

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+?/+? 09 c.1099C>T - r.(1099c>u) p.(Arg367Cys) g.36339610G>A g.35848708G>A exon 9 nt1099(C>T): Arg367>Cys; c.C1099T: p.R367C - NPHS1_000047 1 French CNF family (com-het), 3 Indian CNF patients (hom) and 2 CNF patients of unknown ethnicity (hom) PubMed: Lenkkeri at al. 1999, PubMed: Koziell et al. 2002, PubMed: Heeringa et al. 2008, PubMed: Schoeb et al. 2010, PubMed: Ovunc et al. 2012, PubMed: Kari et al. 2014 - - SUMMARY record yes 0/93 CON - 0 - Anne Polvi
+?/. 9 c.1099C>T - r.(?) p.(Arg367Cys) g.36339610G>A g.35848708G>A - - NPHS1_000047 - PubMed: Santín et al. 2009 - - Germline - - - 0 - Elisabet Ars Criach
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