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


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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