Variant #0000001112 (NC_000011.9:g.5246931T>A)
| Individual ID |
00000101, 00000450, 00000489, 00000532, 00000717, 00000737, 00001095, 00001097, 00001488, 00001811, 00001844 |
| 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.5246931T>A |
| Reference |
(OMIM 0196);dbSNP;Viprakasit V et al.;Chang JG et al.;Zeng YT et al.;Sugihara J et al.; |
| DB-ID |
chr11_000524 |
| Frequency |
- |
| Variant remarks |
Hb New York |
| 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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