Variant #0000001138 (NC_000016.9:g.222201_227178dup)
| Individual ID |
00000219 |
| Chromosome |
16 |
| Allele |
Parent #1 |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Type |
Duplication |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.222201_227178dup |
| Reference |
Shang et al |
| DB-ID |
chr16_000020 |
| Frequency |
- |
| Variant remarks |
αααα4.9 |
| ClassClinical |
Uncertain significance |
| 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
Screenings
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