Variant #0000001090 (NC_000011.9:g.5247493_5248849del)
| Individual ID |
00000117, 00000521, 00001969, 00001970, 00001971, 00002029 |
| Chromosome |
11 |
| Allele |
Parent #1 |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Type |
Deletion |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.5247493_5248849del |
| Reference |
Lou et al |
| DB-ID |
chr11_000076 |
| Frequency |
- |
| Variant remarks |
Taiwanese (1.357kb β0) |
| 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
Screenings
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