All transcript variants in gene NPHS1

Information The variants shown are described using the NM_004646.3 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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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.1102C>T - r.(1102c>u) p.(Pro368Ser) g.36339607G>A g.35848705G>A exon 9 nt1102 (C>T): Pro368>Ser - NPHS1_000049 1 Dutch CNF family (hom) PubMed: Lenkkeri at al. 1999 - - SUMMARY record yes 0/30 CON - - - Anne Polvi
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