Variant #0000574970 (NC_000023.10:g.153792635A>G, G6PD(NM_000402.3):c.-17550T>C)

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.153792635A>G
DNA change (hg38) g.154564420A>G
Published as IKBKG(NM_001099857.2):c.1219A>G (p.M407V), IKBKG(NM_001099857.4):c.1219A>G (p.M407V), IKBKG(NM_001099857.5):c.1219A>G (p.M407V)
ISCN -
DB-ID IKBKG_000085 See all 5 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
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 ?/. - c.-17550T>C r.(?) p.(=) - -
G6PD NM_001042351.1 ?/. - c.-16961T>C r.(?) p.(=) - -
IKBKG NM_003639.3 ?/. - c.1219A>G r.(?) p.(Met407Val) - -