Variant #0000001020 (NC_000016.9:g.223691A>G, HBA2(NM_000517.4):c.*92A>G)
Chromosome |
16 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Type |
Substitution |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.223691A>G |
Reference |
- |
DB-ID |
HBA2_000015 |
Frequency |
- |
Variant remarks |
a novel HbH disease genotype |
ClassClinical |
Pathogenic |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Qi Ming |
Database submission license |
No license selected |
Created by |
Qi Ming |

Variant on transcripts
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