Genomic variant #0000044876

Individual ID 00022454
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.119694673_119700420del
DNA change (hg38) g.120560818_120566565del
Published as hg18 chrX:g.119578701_119584448del
ISCN -
DB-ID CUL4B_000022 See all 2 reported entries
Variant remarks variant does not affect the gene, but qPCR revealed a complete loss of CUL4B expression
Reference Vulto-van Silfhout, submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anneke Vulto-van Silfhout




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CUL4B NM_003588.3 +/. 2i c.68-5940_68-193del - r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000022442 DNA arrayCGH;SEQ-NG - - CUL4B 1 Anneke Vulto-van Silfhout