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     
+/+ 06 c.614_621delCACCCCGGinsTT - r.(614_621delcaccccgginsuu) p.(Thr205_Arg207delinsIle) g.36340543_36340550delinsAA g.35849641_35849648delinsAA exon 6, nt603(delCACCCCGG,insTT): Tyr205, Pro206, Arg207→Ile205; Ex6, c.603del8ins2: Y205,P206,R207 = I205; c.613_620delinsTT: p.T205,P206,R207>I205 - NPHS1_000035 1 Turkish CNF family (hom), 2 European CNF patients (com-het), 1 Pakistan CNF patient (hom), 1 Caucasian CNF patient (com-het) and 1 Tunisian CNF patient (hom) PubMed: Lenkkeri at al. 1999, PubMed: Koziell et al. 2002, PubMed: Heeringa et al. 2008, PubMed: Schoeb et al. 2010, PubMed: Mbarek et al. 2011 - - SUMMARY record yes 0/93 CON - 0 - Anne Polvi
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