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
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