All variants in the NIPBL gene

Information The variants shown are described using the NM_133433.3 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhenScore     

Classification method     

Clinical classification     

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     
+/. 9 c.998del r.(?) p.(Lys333Argfs*15) - - pathogenic g.36976007del g.36975905del 998delA - NIPBL_000194 - Redeker; PubMed: Oliveira 2010 - - Germline - - - 0 - Bert Redeker
Legend   How to query