Variant #0000001217 (NC_000011.10:g.5226675dupT, NM_000518.4:c.217dupA (HBB))

Individual ID 00000241
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226675dupT
Published as CD 71/72 (+A)
Reference dbSNPClinVar
DB-ID HBB_000019 See all 16 reported entries
dbSNP ID rs33969853
Frequency 2/274
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
Date created 2020-12-10 11:59:49 +08:00 (CST)
Date last edited 2021-08-18 15:05:12 +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 +/. 2 c.217dupA CD 71/72 (+A) r.(?) p.(Ser73Lysfs*2) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000256 DNA PCRm HBB 9 Nuur Athirah Binti Mohd Daud