Variant #0000002980 (NC_000016.10:g.34461T>C, NM_000517.6:c.427T>C (HBA2))

Individual ID 00000733
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.34461T>C
Published as -
Reference Jin Ai Mary Anne Tan et al.(2016)
DB-ID HBA1_000001 See all 19 reported entries
dbSNP ID rs41464951
Frequency -
Variant remarks Hb Constant Spring
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 11:02:36 +08:00 (CST)
Date last edited 2021-08-01 13:15:58 +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.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000000827 DNA DHPLC HBA2 2 Nur Aisyah Athirah