All variants in the NIPBL gene

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

4 entries on 1 page. Showing entries 1 - 4.
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     
+/. 6 c.535G>A r.(?) p.(Ala179Thr) - - pathogenic g.36962301G>A g.36962199G>A - - NIPBL_000231 - ESHG2010 Braunholz P11.015 - - Germline - - - 0 - Johan den Dunnen
-?/. 6 c.535G>A r.(?) p.Ala179Thr - - NA g.36962301G>A g.36962199G>A - - NIPBL_000231 yeast two-hybrid analysis: no effect on NIBPL-MAU2 interaction ESHG2010 Braunholz P11.015 - - In vitro (cloned) - - - 0 - Jorge Oliveira
-?/. - c.535G>A r.(?) p.(Ala179Thr) - - likely benign g.36962301G>A g.36962199G>A NIPBL(NM_015384.4):c.535G>A (p.A179T, p.(Ala179Thr)) - NIPBL_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.535G>A r.(?) p.(Ala179Thr) - - likely benign g.36962301G>A - NIPBL(NM_015384.4):c.535G>A (p.A179T, p.(Ala179Thr)) - NIPBL_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
Legend   How to query