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     
+/. 10 c.1885C>T r.(?) p.(Arg629*) - - pathogenic g.36985167C>T g.36985065C>T - - NIPBL_000099 - PubMed: Miyake 2005 - - Germline/De novo (untested) - - - 0 - Cristina Dias
+/. 10 c.1885C>T r.(?) p.(Arg629*) - - pathogenic g.36985167C>T g.36985065C>T - - NIPBL_000099 mosaicism suspected - - - Germline - - - 0 - Joao Silva
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