Variant #0000003621 (NC_000016.10:g.223539C>G, NM_000517.6:c.369C>G (HBA2))

Individual ID 00000957
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.223539C>G
Published as --SEA/αα
Reference dbSNP
DB-ID HBA2_000007
dbSNP ID rs41479347
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.00016 View details
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 2021-10-20 15:42:04 +08:00 (CST)
Date last edited 2021-11-24 09:30:00 +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     
HBA2 NM_000517.6 ?/. - c.369C>G --SEA/αα r.(?) p.(His123Gln) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001133 DNA PCR HBA2 2 Nurul Atika Binti Musa