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.1138C>T - r.(1138c>t) p.(Gln380*) g.36339571G>A g.35848669G>A c.1138C>T:p.Gln380X - NPHS1_000055 4 CNF patients (2 hom and 2 com-het) in 2 large partly consangenous Arab-Muslim CNF families PubMed: Frishberg et al. 2007 - - SUMMARY record yes - - - - Anne Polvi
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