Genomic variant #0000581338

Individual ID 00250662
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
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 1450 reported entries
Variant remarks -
Reference Zou 2019, submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Lin Zou




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     

Protein level     
G6PD NM_000402.3 +/. - c.185A>G - r.(?) p.(His62Arg) - -
G6PD NM_001042351.1 +/. - c.95A>G pathogenic r.(?) p.(His32Arg) - -
IKBKG NM_003639.3 +/. - c.-2044T>C - - - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000251767 DNA MCA - - G6PD 1 Lin Zou