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.1135C>T - r.(1135c>u) p.(Arg379Trp) g.36339574G>A g.35848672G>A 1135C>T: R379W - NPHS1_000054 1 Japanese CNF patient (hom) and CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001, PubMed: Aya et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
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