Genomic variant #0000018572

Individual ID 00001424
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.153788626dup
DNA change (hg38) -
Published as -
ISCN -
DB-ID IKBKG_000033
Variant remarks -
Reference -
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 ?/? 5 c.523dup - r.(?) p.(Arg175Profs*13)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001194 DNA ? - - IKBKG 1 Francesca Fusco