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     
?/. 3 c.361G>A - r.(?) p.(Glu121Lys) g.36342200C>T g.35851298C>T - - NPHS1_000147 - PubMed: Santín et al. 2009 - - Germline - - - 0 - Elisabet Ars Criach
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