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     
-?/. 3 c.218C>T r.(?) p.(Ser72Leu) - - likely benign g.36955727C>T g.36955625C>T - - NIPBL_000250 not pathogenic, inherited from unaffected mother; not in 100 control chromosomes PubMed: Park, 2010 - - Germline/De novo (untested) - - - 0 - Cristina Dias
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