Individual #00000177

Reference Maimiza Zahari et al. (2018)
Gender -
Geographic origin Malaysia
Ethnic origin Chinese
Population -
Remarks -
Microattribution -
Panel size 1
Diseases F9
Owner name Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-11-23 08:52:55 +08:00 (CST)
Date last edited 2020-12-14 16:32:07 +08:00 (CST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000192 DNA MLPA;PCRlr;SEQ F9 2 Nuur Athirah Binti Mohd Daud



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     
X Unknown +/. g.139537080_139537081delAG E54Vfs*7 Maimiza Zahari et al. (2018) F9_000016 - 1/2 - Nuur Athirah Binti Mohd Daud F9 2 NM_000133.3:c.159_160delAG E54Vfs*7 r.(?) p.(Glu54Valfs*7) - -
X Unknown +/. g.139541181G>A - Maimiza Zahari et al. (2018) F9_000015 rs1000886583 1/2 - Nuur Athirah Binti Mohd Daud F9 4 NM_000133.3:c.383G>A - r.(?) p.(Cys128Tyr) - -
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