Full data view for gene NIPBL

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 4 c.332G>C r.(?) p.(Ser111Thr) - Unknown - pathogenic g.36958307G>C g.36958205G>C - - NIPBL_000230 - ESHG2010 Braunholz P11.015 - - Germline - - - 0 - DNA SEQ - - CDLS - ESHG2010 Braunholz P11.015 - - - Germany - - 0 - - 1 Johan den Dunnen
-?/. 4 c.332G>C r.(?) p.Ser111Thr - Unknown - NA g.36958307G>C g.36958205G>C - - NIPBL_000230 yeast two-hybrid analysis: no effect on NIBPL-MAU2 interaction ESHG2010 Braunholz P11.015 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
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