Variant #0000002805 (NC_000008.11:g.78295G>A, NM_002052.5:c.886G>A (GATA4))

Individual ID 00000646
Chromosome 8
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.78295G>A
Published as -
Reference Nora Fawzi et al.(2013): 10.2478/jomb-2013-0006
DB-ID GATA4_000001
dbSNP ID rs104894073
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner 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 16:03:03 +08:00 (CST)
Date last edited 2021-08-01 12:54:19 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
GATA4 NM_002052.5 +/. - c.886G>A G296S r.(?) p.(Gly296Ser) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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