Variant #0000001249 (NC_000023.11:g.48791114_48791123del, NM_002049.3:c.5_14del (GATA1))

Individual ID 00000247
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.48791114_48791123del
Published as c.5_14delAGTTCCCTGC
Reference Su Han Lum et al. (2016)
DB-ID GATA1_000004
dbSNP ID -
Frequency 1/6
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 16:31:13 +08:00 (CST)
Date last edited 2020-12-14 17:51:09 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

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DNA change (cDNA)     

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Protein     

GVS function     

Clinical classification     
GATA1 NM_002049.3 +/. - c.5_14del - r.(?) p.(Glu2Alafs*132) - -



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000000262 DNA PCR GATA1 6 Nuur Athirah Binti Mohd Daud