Variant #0000003140 (NC_000011.10:g.5226675dup, NM_000518.4:c.217dup (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.5226675dup
Published as cd 71-72
Reference K L Tan et al. (2001)dbSNP
DB-ID HBB_000068
dbSNP ID rs33969853
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 10:07:23 +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.217dup cd 71-72 r.(?) p.(Ser73Lysfs*2) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000914 DNA PCRm HBB 4 Nurul Atika Binti Musa