Variant #0000002976 (NC_000016.10:g.34463A>T, NM_000517.6:c.429A>T (HBA2))

Individual ID 00000741
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.34463A>T
Published as -
Reference Jin Ai Mary Anne Tan et al.(2016)
DB-ID HBA2_000004
dbSNP ID rs41412046
Frequency -
Variant remarks Hb PaksĂ©
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-06-29 10:55:24 +08:00 (CST)
Date last edited 2021-08-01 13:17:19 +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.429A>T - r.(?) p.(*143Tyrext*31) - Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000835 DNA DHPLC HBA2 2 Nur Aisyah Athirah