Individual #00000673

Reference Jin-Ai M A Tan et al.(2014)
Gender -
Geographic origin Miri, Sarawak
Ethnic origin Chinese
Population -
Remarks -
Microattribution -
Panel size 1
Diseases HBB
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

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Technique     

Genes screened     

Variants found     

Owner     
0000000740 DNA PCRm;SEQ HBB 2 Nur Aisyah Athirah



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

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DB-ID     

dbSNP ID     

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DNA change (cDNA)     

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GVS function     

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11 Unknown +/. g.5226675_5226676insT - Jin-Ai M A Tan et al.(2014) HBB_000066 rs606231217 - - Nur Aisyah Athirah HBB - NM_000518.4:c.216_217insA CD71/72 r.(?) p.(Ser73Lysfs*2) - Pathogenic
11 Unknown +/. g.5226763_5226766delAAAG - Jin-Ai M A Tan et al.(2014) HBB_000014 rs80356821 - - Nur Aisyah Athirah HBB - NM_000518.4:c.126_129delCTTT c.127_130delCTTT, CD41/42 r.(?) p.(Phe42Leufs*19) - Pathogenic/Likely pathogenic​
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