Variant #0000002789 (NC_000023.11:g.18154C>T, NM_001360016.1:c.563C>T (G6PD))

Individual ID 00000638
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.18154C>T
Published as -
Reference Narazah Mohd Yusoff et al.(2003)
DB-ID G6PD_000017 See all 2 reported entries
dbSNP ID rs5030868
Frequency 7/20
Variant remarks G6PD Mediterranean
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 10:06:17 +08:00 (CST)
Date last edited 2021-08-01 12:51:08 +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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RNA change     

Protein     

GVS function     

Clinical classification     
G6PD NM_001360016.1 +/. - c.563C>T C563T r.(?) p.(Ser188Phe) - Pathogenic



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000000705 DNA PCRm;SEQ G6PD 6 Nur Aisyah Athirah