Variant #0000018629 (NC_000023.10:g.(153764394_153769487)_(153796055_153800000)del, G6PD(NM_000402.3):c.-148_(210+4764_211-1){0})

Individual ID 00001475
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(153764394_153769487)_(153796055_153800000)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID IKBKG_000107
Variant remarks 26,6kb deletion
Reference PubMed: Fusco 2012
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Francesca Fusco
Database submission license No license selected
Created by Francesca Fusco
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Protein level     
G6PD NM_000402.3 +/. _1_2i c.-148_(210+4764_211-1){0} r.0? p.0? - -
IKBKG NM_003639.3 +/. _1_10_ c.-258_*585{0} r.0 p.0 - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001246 DNA PCRq - - IKBKG 1 Francesca Fusco