All variants in the NIPBL gene

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

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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     
+?/. - c.272_280del r.(?) p.(Asp91_Pro93del) - ACMG likely pathogenic (dominant) g.36958247_36958255del g.36958145_36958153del - - NIPBL_000411 ACMG: PS2, PM4, PM2_SUP; confirmed de novo in trio-exome analysis - - - De novo yes - - 0 - Andreas Laner
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