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     
+?/. 5i c.459-9G>A r.spl? p.(=) - - likely pathogenic g.36962216G>A g.36962114G>A - - NIPBL_000256 mosaicism; activation of cryptic acceptor splice site (bioinformatic prediction) Redeker (unpublished) - - De novo - - - 0 - Bert Redeker
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