All variants in the NIPBL gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. 3 c.86C>A r.(?) p.(Pro29Gln) - - pathogenic g.36955595C>A g.36955493C>A - - NIPBL_000123 not in 150 controls; highly conserved aminoacid (rat, mouse, and Drosophila) PubMed: Bhuiyan 2006 - - De novo - - - 0 - Cristina Dias
+/. 3 c.86C>A r.(?) p.(Pro29Gln) - - pathogenic g.36955595C>A g.36955493C>A - - NIPBL_000123 - ESHG2010 Braunholz P11.015 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.86C>A r.(?) p.Pro29Gln - - NA g.36955595C>A g.36955493C>A - - NIPBL_000123 yeast two-hybrid analysis: abolishes NIBPL-MAU2 interaction ESHG2010 Braunholz P11.015 - - In vitro (cloned) - - - 0 - Jorge Oliveira
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