Variant #0000001140 (NC_000011.9:g.5134113_5252589del)
| Individual ID |
00001104, 00001129, 00001131, 00001145 |
| 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.5134113_5252589del |
| Reference |
Shang et al |
| DB-ID |
chr11_000075 |
| Frequency |
- |
| Variant remarks |
Filipino del |
| 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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