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     
+/. 8 c.781T>G r.(?) p.(Ser262Ala) - - pathogenic g.36972056T>G g.36971954T>G - - NIPBL_000234 - ESHG2010 Braunholz P11.015 - rs16903425 Germline - - - 0 - Johan den Dunnen
-?/. 8 c.781T>G r.(?) p.Ser262Ala - - NA g.36972056T>G g.36971954T>G - - NIPBL_000234 yeast two-hybrid analysis: no effect on NIBPL-MAU2 interaction ESHG2010 Braunholz P11.015 - - In vitro (cloned) - - - 0 - Jorge Oliveira
-?/. - c.781T>G r.(?) p.(Ser261Ala) - - likely benign g.36972056T>G - NIPBL(NM_015384.4):c.781T>G (p.(Ser261Ala)) - NIPBL_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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