Variant #0000003720 (NC_000016.10:g.177012G>A, NM_000558.5:c.179G>A (HBA1))

Individual ID 00001012
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.177012G>A
Published as -
Reference George E et al
DB-ID HBA1_000003 See all 2 reported entries
dbSNP ID rs28928878
Frequency myhvp-1
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner MyHVP Team
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by MyHVP Team
Date created 2022-04-25 09:32:58 +08:00 (CST)
Date last edited 2023-12-12 16:44:50 +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     
HBA1 NM_000558.5 +/+ 2 c.179G>A - r.(?) p.(Gly60Asp) missense ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001196 DNA ? HBA1 1 Nur Anis Afifah Binti Shamsudin