Variant #0000001253 (NC_000023.11:g.48791285_48791286insCAGGTGCG, GATA1(NM_002049.3):c.176_177insCAGGTGCG)

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.48791285_48791286insCAGGTGCG
Published as -
Reference Su Han Lum et al. (2016)
DB-ID GATA1_000008
dbSNP ID -
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
Options




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.176_177insCAGGTGCG - r.(?) p.(Leu60Argfs*80) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000263 DNA PCR GATA1 7 Nuur Athirah Binti Mohd Daud