Individual #00000639

Reference Narazah Mohd Yusoff et al.(2003)
Gender -
Geographic origin Malaysia
Ethnic origin Chinese
Population -
Remarks -
Microattribution -
Panel size 1
Diseases G6PD
Owner name 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 09:58:07 +08:00 (CST)
Date last edited 2021-08-01 12:51:23 +08:00 (CST)


Phenotypes

G6PD deficiency (G6PD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000228 acute hemolysis, favism, hyperbilimbinemia, neonatal jaundice - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000706 DNA PCRm;SEQ G6PD 2 Nur Aisyah Athirah



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
X Unknown +/. g.19451G>A - Narazah Mohd Yusoff et al.(2003) G6PD_000016 rs137852327 1/4 G6PD Viangchan Nur Aisyah Athirah G6PD - NM_001360016.1:c.871G>A G871A r.(?) p.(Val291Met) - Pathogenic
X Unknown +/. g.20316G>A - Narazah Mohd Yusoff et al.(2003) G6PD_000020 rs72554664 2/4 G6PD Kaiping Nur Aisyah Athirah G6PD - NM_001360016.1:c.1388G>A G1388A r.(?) p.(Arg463His) - Pathogenic
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