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     
+?/+? 07 c.710T>C - r.(?) p.(Leu237Pro) g.36340454A>G g.35849552A>G - - NPHS1_000136 1 early onset nephrotic syndrome patient from Pakistan (com-het) PubMed: Abid et al. 2012 - - SUMMARY record yes - - 0 - Anne Polvi
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