Genomic variant #0000288022

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.153775015C>A
DNA change (hg38) -
Published as G6PD:c.71G>T (R24L)
ISCN -
DB-ID IKBKG_000075 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.-8-637G>T benign r.(=) p.(=) -
IKBKG NM_003639.3 -/. - c.-1305C>A benign - - -