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.
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     
+?/+? 13 c.1707C>G - r.(1707c>g) p.(Ser569Arg) g.36336621G>C g.35845719G>C c.1707C>G:p.Ser569Arg - NPHS1_000071 1 European (com-het), 1 Arabic (hom) and 1 Arab-Muslim CNF patient (com-het; large partly consangenous CNF family) PubMed: Frishberg et al. 2007, PubMed: Heeringa et al. 2008 - - SUMMARY record yes - - - - Anne Polvi
+?/. - c.1707C>G likely pathogenic r.(?) p.(Ser569Arg) g.36336621G>C - NPHS1(NM_004646.3):c.1707C>G (p.S569R) - NPHS1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
Legend