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     
-/. 9 c.1151A>G r.(?) p.(Asn384Ser) - - benign g.36976160A>G g.36976058A>G - - NIPBL_000102 - PubMed: Miyake 2005; {dbSNP2291703} - - Germline - 0.03 (JP) - 0 - Cristina Dias
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