Genomic variant #0000574960

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.153780204C>T
DNA change (hg38) -
Published as IKBKG(NM_001099856.4):c.191C>T (p.P64L)
ISCN -
DB-ID IKBKG_000090
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     

Protein level     
G6PD NM_000402.3 -?/. _1 c.-5119G>A likely benign r.(?) p.(=) - -
G6PD NM_001042351.1 -?/. _1 c.-4530G>A likely benign r.(?) p.(=) - -
IKBKG NM_003639.3 -?/. - c.-14C>T likely benign r.(?) p.(=) - -