Individual #00000247

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 16:16:41 +08:00 (CST)
Date last edited 2020-12-14 17:51:08 +08:00 (CST)


Phenotypes

Down Syndrome (DS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000128 Associated with transient abnormal myelopoiesis (TAM) - Nuur Athirah Binti Mohd Daud



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000262 DNA PCR GATA1 6 Nuur Athirah Binti Mohd Daud



Variants

6 entries on 1 page. Showing entries 1 - 6.
Legend   How to query  

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.48791114_48791123del c.5_14delAGTTCCCTGC Su Han Lum et al. (2016) GATA1_000004 - 1/6 - Nuur Athirah Binti Mohd Daud GATA1 - NM_002049.3:c.5_14del - r.(?) p.(Glu2Alafs*132) - -
X Unknown +/. g.48791214_48791215insC - Su Han Lum et al. (2016) GATA1_000002 - 1/6 - Nuur Athirah Binti Mohd Daud GATA1 - NM_002049.3:c.105_106insC - r.(?) p.(Ser36Leufs*4) - -
X Unknown +/. g.48791259delG - Su Han Lum et al. (2016) GATA1_000003 - 1/6 - Nuur Athirah Binti Mohd Daud GATA1 - NM_002049.3:c.150delG - r.(?) p.(Ser51Alafs*86) - -
X Unknown +/. g.48791292_48791296delCTACT - Su Han Lum et al. (2016) GATA1_000005 - 1/6 - Nuur Athirah Binti Mohd Daud GATA1 - NM_002049.3:c.183_187delCTACT - r.(?) p.(Tyr62Glnfs*4) - -
X Unknown +/. g.48791325_48791328delinsTG - Su Han Lum et al. (2016) GATA1_000006 - 1/6 - Nuur Athirah Binti Mohd Daud GATA1 - NM_002049.3:c.216_219delinsTG - r.(?) p.(Pro73Glyfs*88) - -
X Unknown +/. g.48791329G>T - Su Han Lum et al. (2016) GATA1_000001 rs587783073 1/6 - Nuur Athirah Binti Mohd Daud GATA1 - NM_002049.3:c.220G>T - r.(?) p.(Val74Phe) - -
Legend   How to query