All transcript variants in gene NPHS1

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

4 entries on 1 page. Showing entries 1 - 4.
Legend  

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     
+/+ 13 c.1701C>A - r.(1701c>a) p.(Cys567*) g.36336627G>T g.35845725G>T 1701C>A: C567X - NPHS1_000070 4 Hispanic CNF patients (com-het) and other CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001, PubMed: Santin et al. 2009, PubMed: Ovunc et al. 2012 - - SUMMARY record yes - - 0 - Anne Polvi
+/. 13 c.1701C>A - r.(?) p.(Cys567*) g.36336627G>T g.35845725G>T - - NPHS1_000070 - PubMed: Santín et al. 2009 - - Germline - - - 0 - Elisabet Ars Criach
+/. 13 c.1701C>A - r.(?) p.(Cys567*) g.36336627G>T g.35845725G>T - - NPHS1_000070 - PubMed: Santín et al. 2009 - - Germline - - - 0 - Elisabet Ars Criach
+?/. 13 c.1701C>A - r.(?) p.(Cys567*) g.36336627G>T g.35845725G>T - - NPHS1_000070 - - - - Germline - - - 0 - Elena Semina
Legend