All variants in the NIPBL gene

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

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/. 2i c.65-5A>G r.spl? p.? - - pathogenic g.36955569A>G g.36955467A>G - - NIPBL_000008 New acceptor splice site (bioinformatic prediction) - - - De novo - - - 0 - Cristina Dias
+/. 2i c.65-5A>G r.spl? p.? - - pathogenic g.36955569A>G g.36955467A>G - - NIPBL_000008 New acceptor splice site (bioinformatic prediction) PubMed: Gillis 2004 - - De novo - - - 0 - Cristina Dias
+/. 2i c.65-5A>G r.spl? p.? - - pathogenic g.36955569A>G g.36955467A>G - - NIPBL_000008 New acceptor splice site (bioinformatic prediction) PubMed: Borck 2007 - - Germline - - - 0 - Cristina Dias
+/. 2i c.65-5A>G r.spl? p.(Leu22Hisfs*23) - - pathogenic g.36955569A>G g.36955467A>G - - NIPBL_000008 New acceptor splice site (bioinformatic prediction) PubMed: Selicorni 2007 - - Germline/De novo (untested) - - - 0 - Cristina Dias
+/. 2i c.65-5A>G r.spl? p.? - - pathogenic g.36955569A>G g.36955467A>G - - NIPBL_000008 - Redeker (unpublished) - - De novo - - - 0 - Bert Redeker
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