Variant #0000000149 (NC_000011.9:g.5276525T>G, HBG2(NM_000184.2):c.-567T>G)
Chromosome |
11 |
Allele |
Parent #1 |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Type |
Substitution |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.5276525T>G |
Reference |
Chen et al |
DB-ID |
HBG2_000016 |
Frequency |
- |
Variant remarks |
Elevated HbF |
ClassClinical |
Pathogenic |
Average frequency (gnomAD v.2.1.1) |
Genomic location of variant could not be determined |
Owner |
Qi Ming |
Database submission license |
No license selected |
Created by |
Qi Ming |
Variant on transcripts
|
|