Genomic variant #0000018553

Individual ID 00001406
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.153780334_153780344dup
DNA change (hg38) -
Published as p.P42fsX45
ISCN -
DB-ID IKBKG_000005
Variant remarks -
Reference PubMed: Smahi et al. 2000, PubMed: Fusco et al. 2008
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
IKBKG NM_003639.3 ?/? 2 c.117_127dup - r.(?) p.(Ser43Cysfs*76)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001173 DNA ? - - IKBKG 1 Francesca Fusco