Variant #0000000252 (NC_000011.9:g.5179272_5271683del, HBD(NM_000519.3):c.-16020_*74922del)
Chromosome |
11 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Type |
Deletion |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.5179272_5271683del |
Reference |
Wu et al |
DB-ID |
HBD_000020 See all 5 reported entries |
Frequency |
- |
Variant remarks |
Chinese Ggamma(Agammadeltabeta)0-Thal |
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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