Variant #0000001146 (NC_000011.9:g.5248167delC)
Individual ID |
00000005, 00000019, 00000020, 00000064, 00000200, 00000222, 00000260, 00000282, 00000744, 00000849, 00000857, 00000883, 00001115, 00001695, 00001749, 00001857 |
Chromosome |
11 |
Allele |
Parent #1 |
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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