Variant #0000288021 (NC_000023.10:g.153775038G>A, G6PD(NM_000402.3):c.48C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.153775038G>A
DNA change (hg38) g.154546823G>A
Published as G6PD(NM_000402.4):c.48C>T (p.G16=)
ISCN -
DB-ID IKBKG_000076
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Protein level     
G6PD NM_000402.3 -?/. 1 c.48C>T r.(?) p.(Gly16=) - -
G6PD NM_001042351.1 -?/. 1 c.-9+645C>T r.(=) p.(=) - -
IKBKG NM_003639.3 -?/. - c.-1282G>A r.(?) p.(=) - -