Individual #00000638

Reference Narazah Mohd Yusoff et al.(2003)
Gender F
Geographic origin Malaysia
Ethnic origin Malay
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 09:57:13 +08:00 (CST)
Date last edited 2021-08-01 12:51:07 +08:00 (CST)


Phenotypes

G6PD deficiency (G6PD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000227 acute hemolysis, favism, hyperbilimbinemia, neonatal jaundice - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000705 DNA PCRm;SEQ G6PD 6 Nur Aisyah Athirah



Variants

6 entries on 1 page. Showing entries 1 - 6.
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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.17303T>C - Narazah Mohd Yusoff et al.(2003) G6PD_000018 rs78365220 1/20 G6PD Vanua Lava Nur Aisyah Athirah G6PD - NM_001360016.1:c.383T>C T383C r.(?) p.(Leu128Pro) - Pathogenic
X Unknown +/. g.18154C>T - Narazah Mohd Yusoff et al.(2003) G6PD_000017 rs5030868 7/20 G6PD Mediterranean Nur Aisyah Athirah G6PD - NM_001360016.1:c.563C>T C563T r.(?) p.(Ser188Phe) - Pathogenic
X Unknown +/. g.18183C>T - Narazah Mohd Yusoff et al.(2003) G6PD_000019 rs137852330 1/20 G6PD Coimbra Nur Aisyah Athirah G6PD - NM_001360016.1:c.592C>T C592T r.(?) p.(Arg198Cys) - Pathogenic​
X Unknown +/. g.19451G>A - Narazah Mohd Yusoff et al.(2003) G6PD_000016 rs137852327 4/20 G6PD Viangchan Nur Aisyah Athirah G6PD - NM_001360016.1:c.871G>A G871A r.(?) p.(Val291Met) - Pathogenic
X Unknown +/. g.20304G>T - Narazah Mohd Yusoff et al.(2003) G6PD_000023 rs72554665 1/20 G6PD Canton Nur Aisyah Athirah G6PD - NM_001360016.1:c.1376G>T G1376T r.(?) p.(Arg459Leu) - Pathogenic
X Unknown +/. g.20316G>A - Narazah Mohd Yusoff et al.(2003) G6PD_000020 rs72554664 1/20 G6PD Kaiping Nur Aisyah Athirah G6PD - NM_001360016.1:c.1388G>A G1388A r.(?) p.(Arg463His) - Pathogenic
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