Individual #00000778

Reference Che Ghazali Norul Hajar et al.(2021): https://medic.upm.edu.my/upload/dokumen/2021062815341008_MJMHS_0913.pdf
Gender -
Geographic origin Malaysia
Ethnic origin Indian
Population -
Remarks -
Microattribution -
Panel size 1
Diseases HH
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-07-12 11:10:21 +08:00 (CST)
Date last edited 2021-08-01 13:24:39 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000000872 DNA PCRdig HFE 3 Nur Aisyah Athirah



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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     

Clinical classification     
6 Unknown +/. g.8671C>G - Che Ghazali Norul Hajar et al.(2021): https://medic.upm.edu.my/upload/dokumen/2021062815341008_MJMHS_0913.pdf HFE_000001 rs1799945 7/48 - Nur Aisyah Athirah HFE 2 NM_001300749.2:c.187C>G H63D r.(?) p.(His63Asp) - Pathogenic
6 Unknown +/. g.8677A>T - Che Ghazali Norul Hajar et al.(2021): https://medic.upm.edu.my/upload/dokumen/2021062815341008_MJMHS_0913.pdf HFE_000002 rs1800730 1/48 - Nur Aisyah Athirah HFE 2 NM_001300749.2:c.193A>T S65C r.(?) p.(Ser65Cys) - Pathogenic
6 Unknown +/. g.10633G>A - Che Ghazali Norul Hajar et al.(2021): https://medic.upm.edu.my/upload/dokumen/2021062815341008_MJMHS_0913.pdf HFE_000003 rs1800562 1/48 - Nur Aisyah Athirah HFE 4 NM_001300749.2:c.845G>A C282Y r.(?) p.(Cys282Tyr) - Pathogenic
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