Variant #0000394075 (NC_000023.10:g.50089805G>A, CCNB3(NM_033031.2):c.3809G>A)

Individual ID 00172953
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.50089805G>A
DNA change (hg38) g.50346806G>A
Published as -
ISCN -
DB-ID CCNB3_000023 See all 2 reported entries
Variant remarks recurrent, found 2 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 2/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00341 View details
Owner Lucy Raymond
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CCNB3 NM_033031.2 ?/. - c.3809G>A r.(?) p.(Arg1270Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173836 DNA SEQ - - SLC38A5 1 Lucy Raymond