Variant #0000001121 (NC_000011.9:g.5247980G>A)
Individual ID |
00001444 |
Chromosome |
11 |
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.5247980G>A |
Reference |
(OMIM 0080);dbSNP;Chen SS et al.;Schiliro G et al.;Sick K et al.; |
DB-ID |
chr11_000226 |
Frequency |
- |
Variant remarks |
Hb G-Copenhagen |
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
|
|