Individual #00000087

Reference Jichun Wang et al. (2008)
Gender -
Geographic origin Malaysia
Ethnic origin Orang Asli
Population -
Remarks -
Microattribution -
Panel size 1
Diseases G6PD
Owner name Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-10-25 14:21:22 +08:00 (CST)
Date last edited 2020-11-24 09:27:30 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000100 RNA PCRm G6PD 3 Nuur Athirah Binti Mohd Daud



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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.154532257C>T G6PD Kaiping Jichun Wang et al. (2008), dbSNP, (OMIM 0029), ClinVar G6PD_000005 rs72554664 1/5 - Nuur Athirah Binti Mohd Daud G6PD - NM_000402.4:c.1478G>A G6PD Kaiping r.(?) p.(Arg493His) - ClinVar
X Unknown +/. g.154533122C>T G6PD Viangchan Jichun Wang et al. (2008), dbSNP, (OMIM 0026), ClinVar G6PD_000001 rs137852327 2/5 - Nuur Athirah Binti Mohd Daud G6PD - NM_000402.4:c.961G>A G6PD Viangchan r.(?) p.(Val321Met) - ClinVar
X Unknown +/. g.154534390G>A G6PD Coimbra Jichun Wang et al. (2008), dbSNP, (OMIM 0031), ClinVar G6PD_000006 rs137852330 2/5 - Nuur Athirah Binti Mohd Daud G6PD - NM_000402.4:c.682C>T G6PD Coimbra r.(?) p.(Arg228Cys) - ClinVar
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