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
|
|