Variant #0000000132 (NC_000011.9:g.5301648G>A)
Individual ID |
00000017, 00000738 |
Chromosome |
11 |
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.5301648G>A |
Reference |
GenBank;dbSNP |
DB-ID |
HBE1_000010 See all 2 reported entries |
Frequency |
- |
Variant remarks |
- |
ClassClinical |
uncertain significance |
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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