Variant #0000001258 (NC_000023.11:g.48791329G>A, NM_002049.3:c.220G>A (GATA1))

Individual ID 00000248
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.48791329G>A
Published as -
Reference Su Han Lum et al. (2016)
DB-ID GATA1_000013
dbSNP ID rs768438726
Frequency 1/9
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner 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 17:02:32 +08:00 (CST)
Date last edited 2021-09-13 11:55:47 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
GATA1 NM_002049.3 +/. - c.220G>A - r.(?) p.(Val74Ile) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000263 DNA PCR GATA1 7 Nuur Athirah Binti Mohd Daud