Individual #00000693

Reference Jin-Ai M A Tan et al.(2014)
Gender -
Geographic origin Limbang, Sarawak
Ethnic origin Malay-Bisayak
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     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000763 DNA PCRm;SEQ HBB 1 Nur Aisyah Athirah
0000000767 DNA PCRm;SEQ HBA2 1 Nur Aisyah Athirah



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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.66258_184734del118477 - Jin-Ai M A Tan et al.(2014) HBB_000025 - - Filipino β-deletion Nur Aisyah Athirah HBB - NM_000518.4:c.*5040864_*5159340del118477 - r.(=) p.(=) - -
16 Unknown +/. g.34164_37967del3804 - Jin-Ai M A Tan et al.(2014) HBA1_000002 - - - Nur Aisyah Athirah HBA2 - NM_000517.6:c.300+55_*3587del - r.? p.? - -
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