Individual #00000803

Reference Rahimah Ahmad et al.(2012)
Gender -
Geographic origin Malaysia
Ethnic origin Malay
Population -
Remarks -
Microattribution -
Panel size 1
Diseases α-thalassaemia
Owner name Noorzalifah Binti Mazuki
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Noorzalifah Binti Mazuki
Date created 2021-08-03 12:28:32 +08:00 (CST)
Date last edited 2021-11-24 09:26:07 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000899 DNA PCR HBA2 3 Noorzalifah Binti Mazuki
0000000901 DNA PCR HBB 1 Noorzalifah Binti Mazuki



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     
11 Unknown ?/. g.5226606T>C - Rahimah Ahmad et al.(2012),dbSNP HBB_000067 rs33914359 14/150 - Noorzalifah Binti Mazuki HBB - NM_000518.4:c.286A>G - r.(?) p.(Lys96Glu) - ClinVar
16 Unknown ?/. g.33866G>C - Rahimah Ahmad et al.(2012),dbSNP HBA2_000006 rs111033605 1/150 - Noorzalifah Binti Mazuki HBA2 - NM_000517.6:c.91G>C - r.(?) p.(Glu31Gln) - ClinVar
16 Unknown +/. g.173008G>A - Rahimah Ahmad et al.(2012),dbSNP HBA2_000003 rs63750158 23/150 - Noorzalifah Binti Mazuki HBA2 - NM_000517.6:c.95+1G>A - r.spl? p.? - ClinVar
16 Unknown ?/. g.173128G>A - Rahimah Ahmad et al.(2012),dbSNP HBA2_000005 rs41515552 86/150 - Noorzalifah Binti Mazuki HBA2 - NM_000517.6:c.99G>A - r.(?) p.(Met33Ile) - ClinVar
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