Variant #0000002802 (NC_000016.10:g.5362G>A, NM_000517.6:c.179G>A (HBA2))

Individual ID 00000645
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.5362G>A
Published as -
Reference Hafiza Alauddin et al.(2014)
DB-ID HBA2_000002 See all 26 reported entries
dbSNP ID rs281864846
Frequency -
Variant remarks -
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 2021-05-19 09:57:22 +08:00 (CST)
Date last edited 2021-08-01 12:53:27 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

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DNA change (cDNA)     

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GVS function     

Clinical classification     
HBA2 NM_000517.6 +/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic



Screenings


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Variants found     

Owner     
0000000712 DNA DHPLC;PCRm HBA2 1 Nur Aisyah Athirah