Variant #0000003137 (NC_000011.10:g.5226763_5226766delAAAG, NM_000518.4:c.126_129delCTTT (HBB))

Individual ID 00000817
Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226763_5226766delAAAG
Published as cd 41-42
Reference K L Tan et al. (2021)dbSNP
DB-ID HBB_000014 See all 39 reported entries
dbSNP ID rs80356821
Frequency -
Variant remarks
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nurul Atika Binti Musa
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nurul Atika Binti Musa
Date created 2021-08-05 09:51:52 +08:00 (CST)
Date last edited 2022-01-25 10:23:19 +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     
HBB NM_000518.4 ?/. - c.126_129delCTTT cd 41-42 r.(?) p.(Phe42Leufs*19) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000914 DNA PCRm HBB 4 Nurul Atika Binti Musa