All transcript variants in gene NPHS1

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

3 entries on 1 page. Showing entries 1 - 3.
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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.468C>G - r.(468c>g) p.(Tyr156*) g.36341921G>C g.35851019G>C 468C>G: Y156X - NPHS1_000023 CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001, PubMed: Philippe et al. 2008 - - SUMMARY record yes - - - - Anne Polvi
+/+ 04 c.468C>G - r.(?) p.(Tyr156*) g.36341921G>C g.35851019G>C - - NPHS1_000023 - PubMed: Bullich 2015, Journal: Bullich 2015 - - Germline - - - 0 - Elisabet Ars Criach
+/. - c.468C>G pathogenic r.(?) p.(Tyr156*) g.36341921G>C - NPHS1(NM_004646.2):c.468C>G (p.Tyr156*) - NPHS1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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