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     
+?/+? 13 c.1715G>A - r.(1715g>a) p.(Ser572Asn) g.36336613C>T g.35845711C>T c.1715G>A: p.S572N; c.G1715A: p.S572N - NPHS1_000072 1 Italian CNF family and 1 European CNF patient (com-het) PubMed: Gigante et al. 2005, PubMed: Schoeb et al. 2010 - - SUMMARY record yes 0/93 CON - - - Anne Polvi
+?/. - c.1715G>A likely pathogenic r.(?) p.(Ser572Asn) g.36336613C>T - NPHS1:NM_004646.3:c.1715G>A (Ser572Asn) - NPHS1_000072 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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