Variant #0000001139 (NC_000011.9:g.5247834_5247835insA)
Individual ID |
00000084, 00001717 |
Chromosome |
11 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Type |
Insertion |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.5247834_5247835insA |
Reference |
(OMIM 882);dbSNP |
DB-ID |
chr11_000415 |
Frequency |
- |
Variant remarks |
Codon 95 (+A);Analysis of rare genotypes of thalassemia in Qinzhou area |
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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