Individual #00000085

Reference Jichun Wang et al. (2008)
Gender -
Geographic origin Malaysia
Ethnic origin Chinese
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 12:20:47 +08:00 (CST)
Date last edited 2020-11-19 15:02:38 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000098 RNA PCRm G6PD 4 Nuur Athirah Binti Mohd Daud



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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 4/8 - Nuur Athirah Binti Mohd Daud G6PD - NM_000402.4:c.1478G>A G6PD Kaiping r.(?) p.(Arg493His) - ClinVar
X Unknown +/. g.154532269C>A G6PD Canton Jichun Wang et al. (2008), dbSNP, (OMIM 0021), ClinVar G6PD_000004 rs72554665 2/8 - Nuur Athirah Binti Mohd Daud G6PD - NM_000402.4:c.1466G>T G6PD Canton r.(?) p.(Arg489Leu) - ClinVar
X Unknown +/. g.154533122C>T G6PD Viangchan Jichun Wang et al. (2008), dbSNP, (OMIM 0026), ClinVar G6PD_000001 rs137852327 1/8 - Nuur Athirah Binti Mohd Daud G6PD - NM_000402.4:c.961G>A G6PD Viangchan r.(?) p.(Val321Met) - ClinVar
X Unknown +/. g.154546061T>C G6PD Gaohe Jichun Wang et al. (2008), dbSNP, (OMIM 0044), ClinVar G6PD_000011 rs137852340 1/8 - Nuur Athirah Binti Mohd Daud G6PD - NM_000402.4:c.185A>G G6PD Gaohe r.(?) p.(His62Arg) - ClinVar
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