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     
+?/+? 09 c.1096A>C - r.(1096a>c) p.(Ser366Arg) g.36339613T>G g.35848711T>G exon 9 nt1096(A>C): Ser366>Arg; c.A1096C: p.S366R - NPHS1_000046 1 Croatian CNF family (hom), 1 North American CNF family (com-het) and 2 Serbian CNF patients (1 hom and 1 com-het) PubMed: Lenkkeri at al. 1999, PubMed: Schoeb et al. 2010 - - SUMMARY record yes 0/30 CON - - - Anne Polvi
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