Individual #00000646

Reference Nora Fawzi et al.(2013)
Gender -
Geographic origin Malaysia
Ethnic origin -
Population -
Remarks -
Microattribution -
Panel size 1
Diseases CHD
Owner name Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-05-19 15:35:35 +08:00 (CST)
Date last edited 2021-08-01 12:54:19 +08:00 (CST)


Phenotypes

Congenital Heart Disease (CHD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Inheritance     

Owner     
0000000235 has Ventricular Septal Defect (VSD) or Atrial Septal Defect (ASD) - Nur Aisyah Athirah



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000713 DNA MCA;PCR;SEQ GATA4 1 Nur Aisyah Athirah



Variants

1 entry on 1 page. Showing entry 1.
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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     
8 Unknown +/. g.78295G>A - Nora Fawzi et al.(2013): 10.2478/jomb-2013-0006 GATA4_000001 rs104894073 - - Nur Aisyah Athirah GATA4 - NM_002052.5:c.886G>A G296S r.(?) p.(Gly296Ser) - Pathogenic
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