Variant #0000003721 (NC_000011.10:g.5226929C>A, NC_000011.10(NM_000518.4):c.92+1G>T (HBB))

Individual ID 00001013
Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.5226929C>A
Published as -
Reference Wong Y Y et al
DB-ID HBB_000004 See all 25 reported entries
dbSNP ID rs33971440
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner MyHVP Team
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by MyHVP Team
Date created 2022-04-27 08:59:20 +08:00 (CST)
Date last edited 2023-12-07 12:03:31 +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.92+1G>T - r.spl? p.? splice ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001198 DNA DHPLC;PCRm HBB 1 Nur Anis Afifah Binti Shamsudin