Genomic variant #0000288019

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.153775066G>A
DNA change (hg38) -
Published as G6PD:c.20C>T (A7V)
ISCN -
DB-ID IKBKG_000077 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland; correct HGVS to be checked
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Rotterdam




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
G6PD NM_001042351.1 -?/. - c.-9+617C>T likely benign r.(=) p.(=) -
IKBKG NM_003639.3 -?/. - c.-1254G>A likely benign - - -