Variant #0000000978 (NC_000016.9:g.219817_224074del, HBA2(NM_000517.4):c.-3095_*475del)
Chromosome |
16 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Type |
Deletion |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.219817_224074del |
Reference |
Xu et al |
DB-ID |
HBA2_000027 |
Frequency |
- |
Variant remarks |
-a4.2 |
ClassClinical |
Pathogenic |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Qi Ming |
Database submission license |
No license selected |
Created by |
Qi Ming |
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Variant on transcripts
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