Variant #0000003212 (NC_000023.11:g.154532969G>A, NM_000402.4:c.1114C>T (G6PD))

Individual ID 00000839
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.154532969G>A
Published as 1024 C>T
Reference O Ainoon et al. (2006)
DB-ID G6PD_000012 See all 3 reported entries
dbSNP ID rs137852342
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Noorzalifah Binti Mazuki
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Noorzalifah Binti Mazuki
Date created 2021-08-10 21:37:51 +08:00 (CST)
Date last edited 2023-11-23 15:01:09 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
G6PD NM_000402.4 +/. 9 c.1114C>T 1024 C>T r.(?) p.(Leu372Phe) - ClinVar
G6PD NM_001042351.2 +/. - c.1024C>T 1024 C>T r.(?) p.(Leu342Phe) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000957 DNA PCR G6PD 1 Noorzalifah Binti Mazuki