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.1100G>A - r.(1100g>a) p.(Arg367His) g.36339609C>T g.35848707C>T 1100G>A: R367H - NPHS1_000048 CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
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