Individual #00000817

Reference K L Tan et al. (2001)
Gender -
Geographic origin Malaysia
Ethnic origin Chinese
Population -
Remarks -
Microattribution -
Panel size 1
Diseases HBB
Owner name Nurul Atika Binti Musa
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nurul Atika Binti Musa
Date created 2021-08-05 09:47:12 +08:00 (CST)
Date last edited 2022-01-25 10:23:19 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000914 DNA PCRm HBB 4 Nurul Atika Binti Musa



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.5225923G>A IVSII #654 K L Tan et al. (2021)dbSNP HBB_000015 rs34451549 - Nurul Atika Binti Musa HBB - NM_000518.4:c.316-197C>T IVSII #654 r.(=) p.(=) - ClinVar
11 Unknown ?/. g.5226675dup cd 71-72 K L Tan et al. (2001)dbSNP HBB_000068 rs33969853 - - Nurul Atika Binti Musa HBB - NM_000518.4:c.217dup cd 71-72 r.(?) p.(Ser73Lysfs*2) - ClinVar
11 Unknown ?/. g.5226763_5226766delAAAG cd 41-42 K L Tan et al. (2021)dbSNP HBB_000014 rs80356821 - Nurul Atika Binti Musa HBB - NM_000518.4:c.126_129delCTTT cd 41-42 r.(?) p.(Phe42Leufs*19) - ClinVar
11 Unknown +/. g.5227100T>C -29 K L Tan et al. (2001)dbSNP HBB_000009 rs34598529 - Nurul Atika Binti Musa HBB - NM_000518.4:c.-79A>G -29 r.(=) p.(=) - ClinVar
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