Variant #0000001150 (NC_000011.9:g.5248193A>G)
Individual ID |
00001125, 00001135, 00001139 |
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.5248193A>G |
Reference |
(OMIM 0168);dbSNP;Ma SK et al.;Thein SL et al.;Yang KG et al.; |
DB-ID |
chr11_000118 |
Frequency |
- |
Variant remarks |
Hb Malay |
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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