Variant #0000581082 (NC_000023.10:g.153774276T>C, G6PD(NM_000402.3):c.185A>G)

Individual ID 00250406
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.153774276T>C
DNA change (hg38) g.154546061T>C
Published as -
ISCN -
DB-ID G6PD_000037 See all 1451 reported entries
Variant remarks -
Reference Zou 2019, submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00014 View details
Owner Lin Zou
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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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.185A>G r.(?) p.(His62Arg) - -
G6PD NM_001042351.1 +/. - c.95A>G r.(?) p.(His32Arg) - -
IKBKG NM_003639.3 +/. - c.-2044T>C r.? p.? - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000251511 DNA MCA - - G6PD 1 Lin Zou