Variant #0000001081 (NC_000011.9:g.5248167delC)
Individual ID |
00000155 |
Chromosome |
11 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
Deletion |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.5248167delC |
Reference |
Shang et al |
DB-ID |
HBB_000007 See all 7 reported entries |
Frequency |
- |
Variant remarks |
- |
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
Screenings
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