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     
+/. 4 c.347dup r.(?) p.(Tyr116*) - - pathogenic g.36958322dup g.36958220dup 347dupA - NIPBL_000040 - PubMed: Tonkin 2004 - - Germline/De novo (untested) - - - 0 - Cristina Dias
Legend   How to query