Variant #0000001213 (NC_000011.10:g.5226995dupC, NM_000518.4:c.27dupG (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.5226995dupC
Published as CD 8/9 (+G)
Reference dbSNP, (OMIM 0325)
DB-ID HBB_000022 See all 8 reported entries
dbSNP ID rs35699606
Frequency 1/274
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 11:20:03 +08:00 (CST)
Date last edited 2021-08-18 15:16:00 +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 +/. 1 c.27dupG CD 8/9 (+G) r.(?) p.(Ser10Valfs*14) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000256 DNA PCRm HBB 9 Nuur Athirah Binti Mohd Daud