Variant #0000000510 (NC_000023.11:g.154534390G>A, NM_000402.4:c.682C>T (G6PD))

Individual ID 00000092
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.154534390G>A
Published as G6PD Coimbra
Reference F Amini et al. (2011), dbSNP, (OMIM 0031), ClinVar
DB-ID G6PD_000006 See all 8 reported entries
dbSNP ID rs137852330
Frequency 1/25
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-10-27 09:15:54 +08:00 (CST)
Date last edited 2021-08-22 14:31:45 +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 +/. - c.682C>T G6PD Coimbra r.(?) p.(Arg228Cys) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000107 DNA PCRm G6PD 3 Nuur Athirah Binti Mohd Daud