Genomic variant #0000044874

Individual ID 00022452
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.119672514C>A
DNA change (hg38) g.120538659C>A
Published as -
ISCN -
DB-ID CUL4B_000016 See all 2 reported entries
Variant remarks -
Reference -
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 Anneke Vulto-van Silfhout




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CUL4B NM_003588.3 +/. 15i c.1906+1G>T - r.1796_1906del p.Gly599_His635del



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000022439 DNA;RNA RT-PCR;SEQ;SEQ-NG - - CUL4B 1 Anneke Vulto-van Silfhout