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     
+/. 7i c.771+1G>C r.(751_771del) p.(Val251_Asp257del) 0.000 - pathogenic g.36971139G>C g.36971037G>C - - NIPBL_000302 - - - - De novo yes - - 0 - Wenjuan Qiu
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