Variant #0000000960 (NC_000011.9:g.5246716T>C, HBB(NM_000518.4):c.*112A>G)
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.5246716T>C |
Reference |
(OMIM 0386);dbSNP;Jankovic L et al.; |
DB-ID |
HBB_000013 |
Frequency |
- |
Variant remarks |
Poly A (A->G); AATAAA->AATAGA beta+ |
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
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