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     
-?/. 4 c.256G>A r.(?) p.(Asp86Asn) - - likely benign g.36958231G>A g.36958129G>A - - NIPBL_000244 - Redeker (unpublished) - - Germline - - - 0 - Bert Redeker
?/. 4 c.256G>A r.(?) p.(Asp86Asn) - - VUS g.36958231G>A g.36958129G>A - - NIPBL_000244 - PubMed: Ganapathy 2019 - rs1188531884 Germline - - - 0 - Johan den Dunnen
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