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     
+/. 10 c.1547del r.(?) p.(Gly516Valfs*24) - - pathogenic g.36984829del g.36984727del 516delT - NIPBL_000258 not in 45 controls PubMed: Galehdari 2011 - - De novo - - - 0 - Cristina Dias
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