Individual #00000248

Reference Su Han Lum et al. (2016)
Gender -
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases DS
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 2020-12-13 16:42:39 +08:00 (CST)
Date last edited 2020-12-14 17:51:55 +08:00 (CST)


Phenotypes

Down Syndrome (DS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000129 Associated with myeloid leukemia of DS (ML-DS) - Nuur Athirah Binti Mohd Daud



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000263 DNA PCR GATA1 7 Nuur Athirah Binti Mohd Daud



Variants

7 entries on 1 page. Showing entries 1 - 7.
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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.48786645G>A - Su Han Lum et al. (2016) GATA1_000010 rs753502884 1/9 - Nuur Athirah Binti Mohd Daud GATA1 - NM_002049.3:c.-20G>A - r.(=) p.(=) - -
X Unknown +/. g.48791185_48791186delTC - Su Han Lum et al. (2016) GATA1_000009 - 1/9 - Nuur Athirah Binti Mohd Daud GATA1 - NM_002049.3:c.76_77delTC - r.(?) p.(Ser26Hisfs*13) - -
X Unknown +/. g.48791198_48791258dup c. 89_149dup71 Su Han Lum et al. (2016) GATA1_000012 - 1/9 - Nuur Athirah Binti Mohd Daud GATA1 - NM_002049.3:c.89_149dup - r.(?) p.(Ser51Argfs*9) - -
X Unknown +/. g.48791202_48791203delGG - Su Han Lum et al. (2016) GATA1_000007 - 1/9 - Nuur Athirah Binti Mohd Daud GATA1 - NM_002049.3:c.93_94delGG - r.(?) p.(Val32Phefs*7) - -
X Unknown +/. g.48791285_48791286insCAGGTGCG - Su Han Lum et al. (2016) GATA1_000008 - 1/9 - Nuur Athirah Binti Mohd Daud GATA1 - NM_002049.3:c.176_177insCAGGTGCG - r.(?) p.(Leu60Argfs*80) - -
X Unknown +/. g.48791296_48791297insT - Su Han Lum et al. (2016) GATA1_000011 - 1/9 - Nuur Athirah Binti Mohd Daud GATA1 - NM_002049.3:c.187_188insT - r.(?) p.(Tyr63Leufs*5) - -
X Unknown +/. g.48791329G>A - Su Han Lum et al. (2016) GATA1_000013 rs768438726 1/9 - Nuur Athirah Binti Mohd Daud GATA1 - NM_002049.3:c.220G>A - r.(?) p.(Val74Ile) - -
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