Variant #0000002649 (NC_000016.10:g.173208G>A, NM_000517.6:c.179G>A (HBA2))

Individual ID 00000593
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.173208G>A
Published as -
Reference S Shwe et al.(2020)
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 2021-04-22 09:17:52 +08:00 (CST)
Date last edited 2021-08-01 14:12:22 +08:00 (CST)
Options




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.179G>A - r.(?) p.(Gly60Asp) - Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000659 DNA PCR;SEQ HBA2 2 Nur Aisyah Athirah