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     
+/. - c.598C>T r.(?) p.(Gln200*) - - pathogenic g.36962364C>T g.36962262C>T - - NIPBL_000368 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783988 Germline - 5/2795 individuals - 0 - Mohammed Faruq
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