Genomic variant #0000336270

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.153774244T>G
DNA change (hg38) -
Published as G6PD:NM_000402.4:c.210+7A>C, NM_001042351.2:c.120+7A>C, …
ISCN -
DB-ID IKBKG_000071 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) 0.00028 View details
Owner VKGL-NL_Leiden




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     
G6PD NM_001042351.1 -?/. - c.120+7A>C likely benign - - -
IKBKG NM_003639.3 -?/. - c.-2076T>G likely benign - - -