Variant #0000003623 (NC_000016.10:g.223127G>A, HBA2(NM_000517.6):c.99G>A)

Individual ID 00000958
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.223127G>A
Published as -α3.7/αα
Reference dbSNP
DB-ID HBA2_000005 See all 2 reported entries
dbSNP ID rs41515552
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nurul Atika Binti Musa
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nurul Atika Binti Musa
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.99G>A -α3.7/αα r.(?) p.(Met33Ile) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001134 DNA PCR HBA2 1 Nurul Atika Binti Musa