Variant #0000003797 (NC_000011.10:g.5226943C>T, NM_000518.5:c.79G>A (HBB))

Individual ID 00001095
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226943C>T
Published as -
Reference -
DB-ID HBB_000006 See all 40 reported entries
dbSNP ID -
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner MyHVP
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by MyHVP
Date created 2022-12-11 15:05:48 +08:00 (CST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
HBB NM_000518.5 +/. 1 c.79G>A - NM_000518.5:r.(79g>a) p.(Glu27Lys) coding ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001254 DNA ? HBB 1 Mohamad Fouzul Bin Mohd Yusoff