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.1965G>T r.(?) p.(Glu655Asp) - - benign g.36985247G>T g.36985145G>T - - NIPBL_000189 not pathogenic, inherited from unaffected mother Redeker (unpublished) - - Germline - - - 0 - Bert Redeker
-/. - c.1965G>T r.(?) p.(Glu655Asp) - - benign g.36985247G>T g.36985145G>T NIPBL(NM_015384.4):c.1965G>T (p.E655D) - NIPBL_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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