Genomic variant #0000036882

Individual ID 00016965
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.119678462_119678466del
DNA change (hg38) g.120544607_120544611del
Published as 1007_1011delTTATA
ISCN -
DB-ID CUL4B_000001 See all 2 reported entries
Variant remarks found once, non-recurrent change
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency 1/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Lucy Raymond




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CUL4B NM_003588.3 ?/? 8 c.1007_1011del - r.(?) p.(Ile336Lysfs*2)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016942 DNA SEQ - - CUL4B 1 Lucy Raymond