All variants in the NIPBL gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 1 c.-316_-315delinsA r.-316_-315delinsa p.(?) - - pathogenic g.36877044_36877045delinsA g.36876942_36876943delinsA -321_-320delCCinsA - NIPBL_000093 mRNA expression reduced (14%); father affected; de novo, in father PubMed: Borck 2004; PubMed: Borck 2006 - - Germline - - - 0 - Cristina Dias
+/. 1 c.-316_-315delinsA r.-316_-315delinsa p.(?) - - pathogenic g.36877044_36877045delinsA g.36876942_36876943delinsA -321_-320delCCinsA - NIPBL_000093 mRNA expression reduced (16%); daughter affected PubMed: Borck 2006 - - De novo - - - 0 - Cristina Dias
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