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     
+?/+? 04 c.515_517delCCA - r.(515_517delcca) p.(Thr172del) g.36341872_36341874delTGG g.35850970_35850972delTGG nt514(delACC): delT172; 513-5delCAC: del172T; c.514_516delACC: p.T172del - NPHS1_000027 1 Dutch CNF family (com-het), 1 Middle Eastern (hom) and 1 Egyptian (hom) CNF patient and CNF patients with non specified number and origin PubMed: Lenkkeri at al. 1999, PubMed: Beltcheva et al. 2001, PubMed: Koziell et al. 2002, PubMed: Schoeb et al. 2010 - - SUMMARY record yes 0/93 CON - - - Anne Polvi
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