Genomic variant #0000018561

Individual ID 00001412
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.153780386G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID IKBKG_000008
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) 0.00114 View details
Owner Francesca Fusco




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
IKBKG NM_003639.3 ?/? 2 c.169G>A - r.(?) p.(Glu57Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001180 DNA ? - - IKBKG 1 Francesca Fusco