Variant #0000000414 (NC_000011.10:g.5226937dupG, NM_000518.4:c.85dupC (HBB))

Individual ID 00000076
Chromosome 11
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226937dupG
Published as CD 27/28 (+C)
Reference Mohd Rashdan Abd Rahim et al. (2015), dbSNP, (OMIM 0342), ClinVar
DB-ID HBB_000038 See all 3 reported entries
dbSNP ID rs35532010
Frequency 1/12
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 2020-10-21 15:04:57 +08:00 (CST)
Date last edited 2021-08-19 09:35:43 +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.85dupC CD 27/28 (+C) r.(?) p.(Leu29Profs*16) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000089 DNA PCRm HBB 9 Nuur Athirah Binti Mohd Daud