Variant #0000018620 (NC_000023.10:g.153792583dup, IKBKG(NM_003639.3):c.1167dup)

Individual ID 00001466
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.153792583dup
DNA change (hg38) g.154564368dup
Published as -
ISCN -
DB-ID IKBKG_000063
Variant remarks -
Reference PubMed: Zonana et al. 2000
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Francesca Fusco
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IKBKG NM_003639.3 ?/? 10 c.1167dup r.(?) p.(Glu390Argfs*5)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001237 DNA ? - - IKBKG 1 Francesca Fusco