Variant #0000003719 (NC_000011.10:g.5227002T>A, HBB(NM_000518.4):c.20A>T)

Individual ID 00001047
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5227002T>A
Published as -
Reference Lie-Injo et al
DB-ID HBB_000069
dbSNP ID -
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner MyHVP Team
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by MyHVP Team
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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_000518.4 +/. 1 c.20A>T HbS r.(?) p.(Glu7Val) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001201 DNA PCR HBB 1 MyHVP Team