Variant #0000023369 (NC_000023.10:g.153774277G>C, G6PD(NM_000402.3):c.184C>G)

Individual ID 00004470
Chromosome X
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.153774277G>C
DNA change (hg38) g.154546062G>C
Published as -
ISCN -
DB-ID G6PD_000171
Variant remarks -
Reference PubMed: Nuchprayoon 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Ettore Capoluongo
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Protein level     
G6PD NM_000402.3 +/. 2 c.184C>G r.(?) p.(His62Asp) - -
G6PD NM_001042351.1 +/. 2 c.94C>G r.(?) p.(His32Asp) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004398 DNA SEQ - - G6PD 1 Ettore Capoluongo