Genomic variant #0000018658

Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.153784529G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID IKBKG_000001 See all 2 reported entries
Variant remarks recurrent change, found twice in individuals with X-linked mental retardation (MRX), for details contact Lucy Raymond (flr24 @ cam.ac.uk)
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 2/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
IKBKG NM_003639.3 ?/? 3 c.337G>A - r.(?) p.(Asp113Asn)