Variant #0000000398 (NC_000011.10:g.5226976delA, NM_000518.4:c.46delT (HBB))

Individual ID 00000074
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226976delA
Published as CD 15 (-T)
Reference S Fucharoen et al. (1990), dbSNP, ClinVar
DB-ID HBB_000043 See all 2 reported entries
dbSNP ID rs63749960
Frequency 1/7
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 11:23:00 +08:00 (CST)
Date last edited 2021-08-19 09:59:52 +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.46delT CD 15 (-T) r.(?) p.(Trp16Glyfs*4) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000087 DNA PCRm HBB 4 Nuur Athirah Binti Mohd Daud