Genomic variant #0000018615

Individual ID 00001462
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.153792196del
DNA change (hg38) -
Published as -
ISCN -
DB-ID IKBKG_000051
Variant remarks -
Reference PubMed: Fusco et al. 2004
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 ?/? 9 c.1078del - r.(?) p.(His360Metfs*91)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001233 DNA SEQ - - IKBKG 1 Francesca Fusco