Genomic variant #0000408074

Individual ID 00183147
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.119694068_119694069del
DNA change (hg38) -
Published as CUL4B S143Yfs*24
ISCN -
DB-ID CUL4B_000059
Variant remarks -
Reference PubMed: Hu 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CUL4B NM_003588.3 ./. - c.479_480del - r.(?) p.(Ser161Tyrfs*24)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184105 DNA SEQ;SEQ-NG - WES-X chromosome CUL4B 1 Johan den Dunnen