Genomic variant #0000023228

Individual ID 00004329
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 WHO classification-Class III
Reference PubMed: Chao 1991
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Ettore Capoluongo




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     

Protein level     
G6PD NM_000402.3 +/. 2 c.185A>G pathogenic r.(?) p.(His62Arg) - -
G6PD NM_001042351.1 +/. 2 c.95A>G pathogenic (recessive) r.(?) p.(His32Arg) G6PD-Gaohe -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004257 DNA SEQ - - G6PD 1 Ettore Capoluongo