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     
+?/+? 11 c.1379G>A - r.(1379g>a) p.(Arg460Gln) g.36339004C>T g.35848102C>T 1379G>A: R460Q; c.1379G>A:R460Q; c.1381G>A: p.R460Q; c.G1379A: p.R460Q - NPHS1_000064 1 Caucasian (com-het) and 1 Hispanic (het) CNF family, 2 Japanese (com-het), 1 Indian (hom), 1 European (com-het), 1 Korean (com-het), 1 Tunisian CNF patient (com-het), 1 Spanish patient (hom) with probable CNF and CNF patients with non specified number and origin. PubMed: Belt 2001PubMed: Sako 2005PubMed: Koziell 2002PubMed: Heeringa 2008PubMed: Philippe 2008PubMed: Lee 2009PubMed: Schoeb 2010PubMed: Mbarek 2011PubMed: Santin 2009 - - SUMMARY record yes 0/295 CON - 0 - Anne Polvi
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