Genomic variant #0000044872

Individual ID 00022450
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.119666274A>G
DNA change (hg38) g.120532419T>C
Published as -
ISCN -
DB-ID CUL4B_000018
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 +/. 20i c.2493+3A>G - r.[2414_2493del, 2429_2493del] p.Asp806*; p.Asn811*



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000022437 DNA;RNA RT-PCR;SEQ;SEQ-NG - - CUL4B 1 Anneke Vulto-van Silfhout