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


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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