Variant #0000003479 (NC_000011.10:g.5227099T>C, NM_000518.4:c.-78A>G (HBB))

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5227099T>C
Published as 28 (A>G)
Reference Uday Y H Abdullah et al. (2020)dbSNP
DB-ID HBB_000005 See all 19 reported entries
dbSNP ID rs33931746
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nurul Atika Binti Musa
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nurul Atika Binti Musa
Date created 2021-09-28 12:10:27 +08:00 (CST)
Date last edited 2023-07-04 16:01:45 +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.-78A>G 28 (A>G) r.(=) p.(=) - ClinVar



Screenings

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