Variant #0000002792 (NC_000023.11:g.19451G>A, NM_001360016.1:c.871G>A (G6PD))

Individual ID 00000639
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.19451G>A
Published as -
Reference Narazah Mohd Yusoff et al.(2003)
DB-ID G6PD_000016 See all 3 reported entries
dbSNP ID rs137852327
Frequency 1/4
Variant remarks G6PD Viangchan
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-05-18 10:16:17 +08:00 (CST)
Date last edited 2021-08-01 12:51:23 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

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DNA change (cDNA)     

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GVS function     

Clinical classification     
G6PD NM_001360016.1 +/. - c.871G>A G871A r.(?) p.(Val291Met) - Pathogenic



Screenings


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Variants found     

Owner     
0000000706 DNA PCRm;SEQ G6PD 2 Nur Aisyah Athirah