Genomic variant #0000573302

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.119670787G>T
DNA change (hg38) -
Published as CUL4B(NM_001079872.1):c.2041C>A (p.(Pro681Thr), p.(Pro699Thr))
ISCN -
DB-ID CUL4B_000062
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CUL4B NM_003588.3 -?/. - c.2095C>A likely benign r.(?) p.(Pro699Thr)