Variant #0000281508 (NC_000023.10:g.153784529G>A, G6PD(NM_000402.3):c.-9444C>T)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.153784529G>A
DNA change (hg38) g.154556314G>A
Published as IKBKG(NM_001099857.4):c.337G>A (p.D113N), IKBKG(NM_001099857.5):c.337G>A (p.D113N)
ISCN -
DB-ID IKBKG_000001 See all 3 reported entries
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) 0.00945 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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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 ?/. - c.-9444C>T r.(?) p.(=) - -
G6PD NM_001042351.1 ?/. - c.-8855C>T r.(?) p.(=) - -
IKBKG NM_003639.3 ?/. - c.337G>A r.(?) p.(Asp113Asn) - -