Full data view for gene CUL4B

Information The variants shown are described using the NM_003588.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 2i c.68-5940_68-193del r.0 p.0 Maternal (confirmed) - pathogenic g.119694673_119700420del g.120560818_120566565del hg18 chrX:g.119578701_119584448del - CUL4B_000022 variant does not affect the gene, but qPCR revealed a complete loss of CUL4B expression Vulto-van Silfhout, submitted - - Germline - - - 0 - DNA arrayCGH, SEQ-NG - - MRX15 - - - - - - - - 0 - - 1 Anneke Vulto-van Silfhout
+/. 2i c.68-5940_68-193del r.0 p.0 Maternal (confirmed) - pathogenic g.119694673_119700420del g.120560818_120566565del hg18 chrX:g.119578701_119584448del - CUL4B_000022 complete loss RNA expression patient LCLs, CUL4A expression unchanged PubMed: Wibley 2010 - - Germline yes - - 0 - DNA, RNA arrayCGH, PCR, RT-PCR, SEQ LCL - MRX;IDX - PubMed: Wibley 2010 4-generation family, 7 affecteds, unafected carrier females M no - - - 0 - - 7 Johan den Dunnen
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