Variant #0000001018 (NC_000016.9:g.223646G>C, HBA2(NM_000517.4):c.*47G>C)
Chromosome |
16 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Type |
Substitution |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.223646G>C |
Reference |
Yao et al |
DB-ID |
HBA2_000012 |
Frequency |
- |
Variant remarks |
3'UTR +47(G>C) |
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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