Variant #0000336272 (NC_000023.10:g.153774997C>G, G6PD(NM_000402.3):c.82+7G>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.153774997C>G
DNA change (hg38) g.154546782C>G
Published as G6PD(NM_000402.4):c.82+7G>C (, p.(=))
ISCN -
DB-ID IKBKG_000073 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) 0.0007 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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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 ?/. 1i c.82+7G>C r.(=) p.(=) - -
G6PD NM_001042351.1 ?/. 1i c.-8-619G>C r.(=) p.(=) - -
IKBKG NM_003639.3 ?/. - c.-1323C>G r.(?) p.(=) - -