Variant #0000002783 (NC_000023.11:g.18183C>T, NM_001360016.1:c.592C>T (G6PD))

Individual ID 00000637
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.18183C>T
Published as -
Reference Narazah Mohd Yusoff et al.(2003)
DB-ID G6PD_000019 See all 2 reported entries
dbSNP ID rs137852330
Frequency 4/73
Variant remarks G6PD Coimbra
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 09:40:07 +08:00 (CST)
Date last edited 2021-08-01 12:50:53 +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.592C>T C592T r.(?) p.(Arg198Cys) - Conflicting interpretations of pathogenicity



Screenings


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Variants found     

Owner     
0000000704 DNA SEQ G6PD 9 Nur Aisyah Athirah