Genomic variant #0000018637

Individual ID 00001483
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.153786783_153786818delinsT
DNA change (hg38) -
Published as -
ISCN -
DB-ID IKBKG_000003
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 ?/? 4 c.436_471delinsT - r.(?) p.(Val146*)



Screenings

Stop! No screenings found!